Term Name: | Niemann-Pick disease |
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Synonyms: | lipoid histiocytosis, sphingomyelin lipidosis, Sphingomyelinase Deficiency Disease |
Definition: | A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. |
Ontology: | Human Disease [DOID:14504] ( DOID:14504 ) |