Disease-gene associations mined from literature

Human genes for lysosomal storage disease

Lysosomal storage disease [DOID:3211]

Lysosomal are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when the lysosome – a specific organelle in the body's cells – malfunctions.

Synonyms:  lysosomal storage disease,  DOID:3211,  lysosomal storage disorder,  lysosomal storage syndrome,  disorder of lysosomal enzyme (disorder) ...