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Niemann-Pick Diseases

Disease ID: disease_node_5606

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DbxrefGARD:13334, ICD10CM:E75.24, MESH:D009542, NCI:C61269, SNOMEDCT_US_2023_03_01:58459009, UMLS_CUI:C0028064
SubclassofDOID_1927
Data SourceDOID, MESH
SynonymsSphingomyelinase Deficiency Disease, lipoid histiocytosis, sphingomyelin lipidosis
Mesh IdD009542
Mesh LabelNiemann-Pick Diseases
Mesh SubclassofD013106, D015616
Doid LabelNiemann-Pick disease
Doid DescriptionA sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. OMIM mapping confirmed by DO. [SN].
Disease Node Iddisease_node_5606
Doid IdDOID_14504
LabelNiemann-Pick Diseases
Doid Alternate IdsDOID_0050442, DOID_0050443, DOID_14770