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Niemann-Pick disease

^ http://www.ebi.ac.uk/efo/EFO_1001380


A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. [ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern ]

Synonyms: SPHINGOMYELIN LIPIDOSIS, Sphingomyelinase Deficiency Disease, NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM, NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK, lipoid histiocytosis (classical phosphatide)

Term info

MedDRA definition citation

MedDRA:10029403

Wikipedia definition citation

Wikipedia:Niemann–Pick_disease

term editor

Sirarat Sarntivijai

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