| NOUN | state | Niemann-Pick disease | a disorder of lipid metabolism that is inherited as an autosomal recessive trait |
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| Meaning | A disorder of lipid metabolism that is inherited as an autosomal recessive trait. | |
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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 |
| inborn error of metabolism | Any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism | |
| lipidosis | A disorder of lipid metabolism | |
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