Engelsk substantiv: Sachs disease | |||
1. | Sachs disease (om tilstand) 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 | ||
Ord med samme betydning (synonymer) | infantile amaurotic idiocy, Tay-Sachs, Tay-Sachs disease | ||
Mindre spesifikke uttrykk | autosomal recessive defect, autosomal recessive disease, lipidosis, monogenic disease, monogenic disorder | ||