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lysosomal lipid storage disorder

Disease Summary
Associated Targets (315)
Tbio

219

Tchem

69

Tclin

22

Tdark

5


Mondo Description An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.
Disease Ontology Description A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
Mondo Term and Equivalent IDs
MONDO:0019245:  lysosomal lipid storage disorder
ICD9:272.7: 
MESH:D008064: 
Orphanet:79204: 
SCTID:10741005: 
UMLS:CN205834: