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Summary Literature (0)
DOID:14504 - Niemann-Pick disease

Disease Ontology Definition:A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.

Synonyms: Niemann-Pick disease type A, Niemann-Pick disease type B, Niemann-Pick disease type C, Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease, subacute juvenile form, Sphingomyelinase Deficiency Disease, Type A Niemann-Pick Disease, lipoid histiocytosis, lipoid histiocytosis (classical phosphatide), sphingomyelin lipidosis,

Xenbase Genes : npc1, smpd1, npc2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0001982 - Niemann-Pick disease


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): non-Langerhans-cell histiocytosis (is_a), sphingolipidosis (is_a)