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lysosomal storage disease
Disease Summary
Associated Targets (386)
Tbio
270
Tchem
85
Tclin
26
Tdark
5
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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:3211
MESH:D016464
NCIT:C61250
Orphanet:68366
SCTID:23585005
UMLS:C0085078
UMLS:CN205533
MONDO:0002561
High level summary of knowledge for a disease, including descriptions and datasource references.