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) ...