Disease Index

rare genetic disorder

ciliopathic human genetic disorder that produces many effects and affects many body systems

human disease

human disease

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs

Human disease

lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin

human disease

Human disease

Bartter disease that has material basis in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36

human disease

form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes

a rare, genetic neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement

retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3

syndrome named after Erdal Basaran and Ertan Yilmaz

medical condition

Bazex-DuprC)-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas

human disease

disease

Human disease

rare genetic disorder

X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis

medical condition

syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations

human disease

human disease

human disease

human disease