" /> Niemann-Pick Disease - CISMeF





Preferred Label : Niemann-Pick Disease;

NCIt related terms : Sphingomyelin/Cholesterol Lipidosis;

NCIt definition : An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.;

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31/07/2025


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