bn:00057651n
Noun Concept
Categories: Rare diseases, Ashkenazi Jews topics, Autosomal recessive disorders, Lipid storage disorders, Congenital disorders
EN
Niemann-Pick disease  Niemann–Pick disease  lipoid histiocytosis  Niemann-Pick  Niemann-pick's
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EN
Niemann–Pick disease, also known as acid sphingomyelinase deficiency, is a group of rare genetic diseases of varying severity. Wikipedia
Severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells Wikidata
Any of a group of fatal inherited metabolic disorders associated with sphingomyelin accumulation in the central nervous system. Wiktionary