autosomal dominant disorder


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Related to autosomal dominant disorder: Hereditary diseases, Genetic diseases, Genetic disorders
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Noun1.autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosomeautosomal dominant disorder - 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 ?
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects.
Although it is an autosomal dominant disorder but has less penetrance in males.
1 It is an autosomal dominant disorder or more commonly due to mutation in the F.
PJS is inherited, autosomal dominant disorder with an incidence from 1:25,000 to 1:280,000.
Hailey-Hailey disease is a genodermatosis characterized by incomplete penetrance of an autosomal dominant disorder with defects in the ATP2C1 gene.
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized by the development of multiple adenomas in the colon and rectum and a high risk of subsequent cancer.
It is an autosomal dominant disorder consisting of nerve tissue tumors(i.
Osteopoikilosis is an autosomal dominant disorder characterized by small round or ovoid radio-opacities appearing in the juxta-articular regions of bone.
Gorlin syndrome is a rare autosomal dominant disorder caused mainly by mutations in the PTCH1 gene.
Primary periodic paralysis is a rare autosomal dominant disorder of ion-channel dysfunction, manifested by episodic flaccid paresis secondary to abnormal sarcolemma excitability.
It also provided a definitive diagnosis for the patient's affected family members in this autosomal dominant disorder.
Pachydermoperiostosis is an autosomal dominant disorder characterized by periosteal new bone formation, and involves the distal extremities.

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