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Niemann-Pick disease

Disease Summary
Associated Targets (5)
Tchem

3

Tclin

1

Tbio

1


GARD Rare
Mondo Description 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.
Disease Ontology Description A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
Mondo Term and Equivalent IDs
MONDO:0001982:  Niemann-Pick disease
EFO:1001380: 
GARD:0013334: 
MESH:D009542: 
NCIT:C61269: 
SCTID:58459009: 
UMLS:C0028064: