English > autosomal recessive defect: 1 sense > noun 1, state| Meaning | A disease caused by the presence of two recessive mutant genes on an autosome. |
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| Synonym | autosomal recessive disease |
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| Narrower | Niemann-Pick disease | A disorder of lipid metabolism that is inherited as an autosomal recessive trait |
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| Tay-Sachs disease, Tay-Sachs, Sachs disease, infantile amaurotic idiocy | A hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe |
| Werdnig-Hoffman disease | autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis |
| limb-girdle muscular dystrophy | An autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age |
| thrombasthenia | A rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results |
| tyrosinemia | autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation |
| Broader | genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition | A disease or disorder that is inherited genetically |
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