Gaucher's disease

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Noun1.Gaucher's disease - a rare chronic disorder of lipid metabolism of genetic origin
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
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References in periodicals archive ?
The chances of being born with Gauchers Disease are one in 40,000, as both parents have to carry the mutant gene.
Because Ellie was born with Gauchers disease ( an inherited enzyme deficiency disorder ( Jill's embryos had to be tested to ensure any child born following IVF treatment does not have the illness.