autosomal dominant disorder


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Related to autosomal dominant disorder: Hereditary diseases, Genetic diseases, Genetic disorders
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Synonyms for autosomal dominant disorder

References in periodicals archive ?
HNPCC is an autosomal dominant disorder caused by germ line mutations in DNA mismatch repair (MMR) genes.
Hereditary hemorrhagic telangiectasia (HHT; Osler-Weber-Rendu syndrome) is another autosomal dominant disorder distinguished by vascular dysplasia in multiple organs that can result in excessive bleeding.
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterised by seizures, cutaneous lesions and hamartomatous lesions in various organs (1).
The most common cause of sudden cardiac death in children is hypertrophic cardiomyopathy, an autosomal dominant disorder seen in approximately 1 of every 500 people.
The Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) Syndrome is an autosomal dominant disorder of ectodermal and/or mesodermal interaction.
Researchers of headache ailments believe that a predisposition to migraine is genetic (an autosomal dominant disorder in which a parent with migraine can pass a predisposition to the illness).
HD is an autosomal dominant disorder, which means that each of these persons is at 50 percent risk of developing it.
An autosomal dominant disorder, hereditary angioedema is caused by a problem with the gene for a protein called C1 inhibitor (C1-INH).
The best example of predictive testing is Huntington disease, an adult-onset autosomal dominant disorder for which a very accurate molecular test is available.
Tuberous sclerosis complex is an autosomal dominant disorder carried on two genes.
March 1, 2011 /PRNewswire/ -- Hereditary angioedema (HAE) is an autosomal dominant disorder resulting from a deficiency in functional C1 inhibitor.
Neurofibromatosis--an autosomal dominant disorder that results in tumor growth--affects 1 person in 4,000, with about 100,000 Americans estimated to have the condition.
BEALS-HECHT SYNDROME (Beals syndrome; congenital contractural arachnodactyly) is a rare autosomal dominant disorder characterized by arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities.
HD is an autosomal dominant disorder, which means that each child of a parent with the disease has a 50 percent risk of inheriting the illness.
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