1 Terms
Contributors in Diseases
Diseases
Cyclothymic disorder
Health care; Diseases
An affective disorder characterised by periods of depression and hypomania. These may be separated by periods of normal mood.
Gaucher disease
Health care; Diseases
An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see glucosylceramidase) featuring the pathological storage of glycosylceramide in mononuclear phagocytes ...
Friedreich ataxia
Health care; Diseases
An autosomal recessive disease, usually of childhood onset, characterised pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal ...
Sandhoff disease
Health care; Diseases
An autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A & B (see beta-N-acetylhexosaminidase) which leads to an accumulation of GM2 ganglioside and the sphingolipid ...
Unverricht-Lundborg syndrome
Health care; Diseases
An autosomal recessive condition characterised by recurrent myoclonic and generalised seizures, ataxia, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic ...
Glycogen storage disease Type I
Health care; Diseases
An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney ...
Hereditary hemorrhagic telangiectasia
Health care; Diseases
An autosomal dominant vascular anomaly characterised by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with ...
