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lysosomal storage disease

Disease Summary
Associated Targets (386)
Tbio

268

Tchem

86

Tclin

26

Tdark

6


Mondo Description A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
Disease Ontology Description An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
Mondo Term and Equivalent IDs
MONDO:0002561:  lysosomal storage disease
MESH:D016464: 
NCIT:C61250: 
Orphanet:68366: 
SCTID:23585005: 
UMLS:C0085078: 
UMLS:CN205533: