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Metadata
ID DOID:14504
Name Niemann-Pick disease
Definition A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
https://en.wikipedia.org/wiki/Niemann-Pick_disease, https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease
Xrefs

GARD:13334

ICD10CM:E75.24

MESH:D009542

NCI:C61269

SNOMEDCT_US_2023_03_01:58459009

UMLS_CUI:C0028064

Alternateids

DOID:0050442

DOID:0050443

DOID:14770

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

lipoid histiocytosis [EXACT]

sphingomyelin lipidosis [EXACT]

Sphingomyelinase Deficiency Disease [EXACT]

Parent Relationships

is_a sphingolipidosis

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