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