FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lysosomal storage disease ID (Ontology) DOID:3211 (Human Disease)
Definition An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
Also Known As "disorder of lysosomal enzyme" ; "inborn lysosomal enzyme disorder" ; "lysosomal storage metabolism disorder"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
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 Alleles Genes
 lysosomal storage disease       2      2
 model of | lysosomal storage disease       2       --
Spanning Tree (Parents/Children)
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disease of metabolism__
genetic disease________|
                       inherited metabolic disorder
                        |__lysosomal storage disease  290 rec.
                            |__alpha-mannosidosis 6 rec.
                            |__aspartylglucosaminuria 3 rec.
                            |__beta-mannosidosis 1 rec.
                            |__cystinosis 1 rec.
                            |__Danon disease 1 rec.
                            |__fucosidosis 1 rec.
                            |__galactosialidosis
                            |__lipid storage disease 215 rec.
                            |   |__Chanarin-Dorfman syndrome 1 rec.
                            |   |__Farber lipogranulomatosis
                            |   |__lysosomal acid lipase deficiency(+) 21 rec.
                            |   |__mucolipidosis(+) 17 rec.
                            |   |__neuronal ceroid lipofuscinosis(+) 62 rec.
                            |   |__Siddiqi syndrome 4 rec.
                            |   |__sphingolipidosis(+) 85 rec.
                            |   |__steatotic liver disease(+) 19 rec.
                            |   |__xanthomatosis(+) 10 rec.
                            |__mucopolysaccharidosis 47 rec.
                            |   |__mucopolysaccharidosis I(+) 4 rec.
                            |   |__mucopolysaccharidosis II 1 rec.
                            |   |__mucopolysaccharidosis III(+) 30 rec.
                            |   |__mucopolysaccharidosis IV(+) 6 rec.
                            |   |__mucopolysaccharidosis IX
                            |   |__mucopolysaccharidosis type VII 4 rec.
                            |   |__mucopolysaccharidosis VI 2 rec.
                            |   |__mucopolysaccharidosis X 5 rec.
                            |__Schindler disease 2 rec.
                            |   |__Kanzaki disease 2 rec.
                            |   |__Schindler disease type 1 2 rec.
                            |   |__Schindler disease type 3
                            |__sialuria 20 rec.
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Is a inherited metabolic disorder
Part of
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Synonyms
  • "disorder of lysosomal enzyme" EXACT
    "inborn lysosomal enzyme disorder" EXACT
    "lysosomal storage metabolism disorder" EXACT
Secondary IDs
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MESH:D016464
NCI:C61250
SNOMEDCT_US_2023_03_01:23585005
UMLS_CUI:C0085078