Genetic disorders

Genetic disorders

Genetic diseases, syndromes, or conditions caused by genetic variations and abnormalities in genes or chromosomes.

Industry: Health care

Add a new term

Contributors in Genetic disorders

Become a Contributors

Genetic disorders

ubiquinone

Health care; Genetic disorders

1) A naturally occurring benzoquinone important in electron transport in mitochondrial membranes. Coenzyme-Q functions as an endogenous antioxidant; deficiencies of this enzyme have been observed in ...

neurilemmoma

Health care; Genetic disorders

1) A neoplasm that arises from Schwann cells of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, ...

gastrinoma

Health care; Genetic disorders

1) A neoplasm that often involves blood vessels, usually occurs in the pancreas or the wall of the duodenum, and produces excessive amounts of gastrin which stimulates gastric-acid secretion and ...

blood-brain barrier (BBB)

Health care; Genetic disorders

1) A network of blood vessels with closely spaced cells that makes it difficult for potentially toxic substances (such as anticancer drugs) to penetrate the blood vessel walls and enter the brain. 2) ...

sarcoplasmic reticulum

Health care; Genetic disorders

1) A network of tubules and sacs in the cytoplasm of skeletal muscles that assist with muscle contraction and relaxation by releasing and storing calcium ions. 2) The endoplasmic reticulum of cardiac ...

acetylcholine

Health care; Genetic disorders

1) A neurotransmitter. Acetylcholine in vertebrates is the major transmitter at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector ...

2-(acetyloxy)-n,n,n-trimethylethanaminium

Health care; Genetic disorders

1) A neurotransmitter. Acetylcholine in vertebrates is the major transmitter at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector ...