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Synset

a disease caused by the presence of two recessive mutant genes on an autosome
<noun.state>

autosomal recessive defect more info
autosomal recessive disease more info
semantic pointers
hypernym
genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition
hyponym
limb-girdle muscular dystrophy Niemann-Pick disease Tay-Sachs disease, Tay-Sachs, Sachs disease, infantile amaurotic idiocy thrombasthenia tyrosinemia Werdnig-Hoffman disease