autosomal dominant disease


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Related to autosomal dominant disease: autosomal recessive disease, Hereditary diseases, Genetic diseases, Genetic defects, inherited diseases
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Noun1.autosomal dominant disease - a disease caused by a dominant mutant gene on an autosomeautosomal dominant disease - a disease caused by a dominant mutant gene on an autosome
Huntington's chorea, Huntington's disease - hereditary disease; develops in adulthood and ends in dementia
malignant hyperthermia - hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity
Marfan's syndrome - an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system
neurofibromatosis, von Recklinghausen's disease - autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
osteogenesis imperfecta - autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily
References in periodicals archive ?
Classic AMLs are sporadic in 80% of cases, while the remaining 20% are associated with genetic syndromes, such as tuberous sclerosis complex, an autosomal dominant disease.
First degree relatives have 50% chance of this autosomal dominant disease.
Recall that the road to the use of statins in many ways started with familial hypercholesterolemia, an autosomal dominant disease.
1) It is an hereditary autosomal dominant disease with a prevalence estimated in various studies to be between 1/57 000 and 1/256 000, and a male: female ratio of 1:1.
It is mainly an autosomal dominant disease, such as in Rutherfurd syndrome.
Researchers who have studied the MCUL's genetic profile have found that highly penetrant mutations in an enzyme on chromosome 1 cause the condition, an autosomal dominant disease.
We have been using this technique primarily for screening mitochondrial DNA and studied the FGFR genes as a model for the use of TTGE in autosomal dominant disease.
Hereditary angioedema is an autosomal dominant disease, meaning that each child of a parent with HAE has a 50/50 chance of also being afflicted with the disease; so understanding pediatric dosing requirements is essential for such genetic diseases," commented Colin Broom, M.
There's clearly an inheritance pattern that suggests an autosomal dominant disease," said Dr.

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