lysosomal storage disease
disorder of lysosomal enzymes
exact
lysosomal disease
exact
lysosomal disorder
exact
lysosomal storage disorder
exact
lysosome disease
exact
lysosome disorder
exact
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.
MONDO:0019052
inborn errors of metabolism
is_a
SPBC1683.12 SPCC417.10 SPBC2D10.14c SPBC1773.15 SPAPB24D3.10c SPAC6G10.03c SPAC1039.11c SPAC607.09c SPBC530.12c SPBPB10D8.01 SPBPB10D8.02c SPBC16A3.12c SPBC14C8.15 SPAC3A12.18 SPCPB1C11.03 SPBC2G2.01c SPBC460.05 SPCC1672.09 SPBC4C3.08 SPBC713.07c SPAC869.07c SPAC1002.16c SPBC11B10.05c SPAC19G12.10c SPBC28E12.06c SPAC30D11.01c SPAC11D3.18c SPAC1039.04 SPBC16G5.09 SPBC1773.09c SPAPB8E5.04c SPCC757.13