Disease Index

rare human genetic disease

human disease

Human disease

) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits

human disease

type of immunodeficiency

leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has material basis in heterozygous mutation in the CSF1R gene on chromosome 5q32

human disease

human disease

rare from of inflammatory arthritis characterized by fevers, rash, and joint pain

sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning

human disease

hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums

parasitic disease

B cell deficiency that is caused by a reduction in all types of gamma globulins

medical condition

amino acid metabolic disorder that has material basis in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis

human disease

disease

human disease

human disease

human disease

human disease

connective tissue benign, locally invasive neoplasm that occurs most often in the abdomen, arms and legs