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Sinonim autosomal recessive defect

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1. a disease caused by the presence of two recessive mutant genes on an autosome (noun.state)

hypernym	:	congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder,
definition	:	a disease or disorder that is inherited genetically (noun.state)

hyponym	:	limb-girdle muscular dystrophy,
definition	:	an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages (noun.state)

hyponym	:	niemann-pick disease,
definition	:	a disorder of lipid metabolism that is inherited as an autosomal recessive trait (noun.state)

hyponym	:	infantile amaurotic idiocy, sachs disease, tay-sachs, tay-sachs disease,
definition	:	a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood (noun.state)

hyponym	:	thrombasthenia,
definition	:	a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results (noun.state)

hyponym	:	tyrosinemia,
definition	:	autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation (noun.state)

hyponym	:	werdnig-hoffman disease,
definition	:	autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhood (noun.state)

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