List of articles in "Disease" category - Page 189

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein. It is also known as […]

Acute basophilic leukemia is a rare form of acute myeloid leukemia where blasts are accompanied by abnormal basophils in all stages of differentiation. It would most likely be classified as […]

Urocanic aciduria also called urocanate hydratase deficiency or urocanase deficiency is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme urocanase. It is a secondary disorder of […]

Ventilator-associated lung injury (VALI) is an acute lung injury that develops during mechanical ventilation and is termed ventilator-induced lung injury (VILI) if it can be proven that the mechanical ventilation […]

Hypopharyngeal Cancer is a disease in which malignant cells grow in the hypopharynx (the area where the larynx and esophagus meet).It first forms in the outer layer (epithelium) of the […]

Woodhouse–Sakati syndrome also called hypogonadism alopecia diabetes mellitus intellectual disability and extrapyramidal syndrome is a rare autosomal recessive multisystem disorder which causes malformations throughout the body and deficiencies affecting the […]

Multiple sulfatase deficiency (also known as Austin disease and Mucosulfatidosis) is a very rare autosomal recessive lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes. It is similar […]

Central core disease (CCD) also known as central core myopathy is an autosomal dominant congenital myopathy (inborn muscle disorder). It was first described by Shy and Magee in 1956. It […]

Hip dysplasia developmental dysplasia of the hip (DDH) or congenital dysplasia of the hip (CDH) is a congenital or developmental deformation or misalignment of the hip joint.

Quebec Platelet Disorder (QPD) is a rare autosomal dominant bleeding disorder described in a family from the province of Quebec in Canada.