autosomal recessive defect

Explore definitions, synonyms, and language insights of autosomal recessive defect

Definitions

Noun

a disease caused by the presence of two recessive mutant genes on an autosome

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Synonyms

autosomal recessive disease

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More General Terms

congenital disease genetic abnormality genetic defect genetic disease genetic disorder hereditary condition hereditary disease inherited disease inherited disorder

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More Specific Terms

infantile amaurotic idiocy limb-girdle muscular dystrophy Niemann-Pick disease Sachs disease Tay-Sachs Tay-Sachs disease thrombasthenia tyrosinemia Werdnig-Hoffman disease

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