Definitions of autosomal dominant disorder
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a disease caused by a dominant mutant gene on an autosome
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synonyms:
autosomal dominant disease
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types:
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Huntington's chorea, Huntington's disease
hereditary disease; develops in adulthood and ends in dementia
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malignant hyperthermia
hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity
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Marfan's syndrome
an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system
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neurofibromatosis, von Recklinghausen's disease
autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
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osteogenesis imperfecta
autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily
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type of:
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congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder
a disease or disorder that is inherited genetically
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