niemann-pick disease
Noun
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A disorder of lipid metabolism that is inherited as an autosomal recessive trait (synset 114187489)
is a type of:
- 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
- autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
- lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
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