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Communities

All Communities

  • Fabry Disease

    7 members

    Fabry Disease is a rare X-linked recessive lysosomal storage disorder.

  • Facioscapulohumeral Muscular Dystrophy

    2 members

    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

    members

    Factor II Deficiency is a rare blood clotting disorder due to the lack of a prothrombin needed for blood to clot.

  • Factor V Deficiency

    8 members

    Factor V Deficiency is a rare inherited disorder that affects the body's ability to clot the blood.

  • Factor VII deficiency

    3 members

  • Fahr’s Syndrome

    13 members

    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

    11 members

    Familial Adenomatous Polyposis is a rare condition in which polyps form in the epithelium of the large intestine.

  • Familial Alzheimer Disease

    2 members

    Familial Alzheimer's disease is a type of Alzheimer's disease caused by a genetic predisposition.

  • Familial Breast Cancer

    3 members

    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

    17 members

    Familial Cold Autoinflammatory Syndrome is a rare inflammatory disorder characterized by fever, rash and arthralgia after generalized exposure to cold temperatures.

  • Familial Exudative Vitreoretinopathy

    4 members

    Familial Exudative Vitreoretinopathy is a rare retina disease characterized by lack of blood vessels in the peripheral retina.

  • Familial Hemiplegic Migraine

    5 members

  • Familial isolated dilated cardiomyopathy

    3 members

    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

    3 members

    Familial Mediterranean Fever is a rare genetic autoinflammatory disease caused by mutations in the MEFV gene.

  • Fanconi Anemia

    4 members

    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

    4 members

    Fanconi Syndrome is a disorder in which the function of the kidney is impaired.

  • Femur-Fibula-Ulna Complex

    members

  • FG Syndrome

    4 members

    FG syndrome is a rare genetic disorder linked to the X chromosome which causes physical anomalies and developmental delays.

  • Fibrodysplasia Ossificans Progressiva

    7 members

    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

    5 members

    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

    102 members

    Fibromyalgia is a disorder characterized by the core symptoms of chronic widespread pain and tenderness, fatigue, sleep disturbance and cognitive disturbance. The severity of each differs betwee...

  • Fibrous Dysplasia of Bone

    6 members

    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...

  • Fibular Hemimelia

    1 members

    Fibular Hemimelia is the congenital absence or shortening of the fibula.

  • Fitz-Hugh-Curtis Syndrome

    members

    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

    5 members

    Focal Dystonia is a rare neurological condition affecting a single or multiple muscles causing muscular contraction or twisting.

  • Follicular Lymphoma

    2 members

  • Fragile X Associated Tremor/Ataxia Syndrome

    1 members

    Fragile X Associated Tremor/Ataxia Syndrome is a rare neurdegenerative disorder.

  • Fragile X Syndrome

    2 members

    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

    24 members

    Fraser Syndrome is a rare congenital disorder characterized by developmental defects, including webbed hands and feet and the underdevelopment of the eyes.

  • Freeman-Sheldon syndrome

    1 members

    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

    5 members

    Friedreich's Ataxia is rare inherited genetic disorder characterized by progressive damage to the nervous system.

  • Frontotemporal Dementia

    10 members

    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

    5 members

    Fructose malabsorption is a digestive disorder of the small intestine in which the fructose carrier in enterocytes is deficient.

  • Fructose-1,6-Bisphosphatase Deficiency

    3 members

    Hommes, et al., defines FDPase deficiency as "a rare, presumably autosomal recessive disorder of gluconeogenesis. ... Clinical hallmarks of this disorder are hyperventilation, irritability, ketoaci...

  • Fukuyama Congenital Muscular Dystrophy

    members