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Niemann Pick disease

Used for:

lipoid histiocytosis (classical phosphatide)

Used for:

sphingomyelin lipidosis

Used for:

sphingomyelinase deficiency

Broader Terms:

enzyme deficiency

Broader Terms:

sphingolipidosis

Scope Note:

caused by deficiency of sphingomyelinase, resulting in accumulation of sphingomyelin in the reticuloendothelial system, mental and physical retardation, enlarged liver and spleen, anemia, and blindness.

Term Number:

1849-9151


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