Meaning | 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. |
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Synonyms | Tay-Sachs disease, Sachs disease, infantile amaurotic idiocy |
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Broader | autosomal recessive disease, autosomal recessive defect | A disease caused by the presence of two recessive mutant genes on an autosome |
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lipidosis | A disorder of lipid metabolism |
monogenic disorder, monogenic disease | An inherited disease controlled by a single pair of genes |