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DOID:14504 - Niemann-Pick disease
Disease Ontology Definition:A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
Synonyms: lipoid histiocytosis (classical phosphatide), 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, sphingomyelin lipidosis, Sphingomyelinase Deficiency Disease, Type A Niemann-Pick Disease, lipoid histiocytosis
Echinobase Genes
:
npc2,
smpd1,
npc1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee