Search Ontology:
Human Disease

lysosomal storage disease

Term ID
DOID:3211
Synonyms
  • disorder of lysosomal enzyme
  • inborn lysosomal enzyme disorder
  • lysosomal storage metabolism disorder
Definition
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. http://en.wikipedia.org/wiki/Lysosomal_storage_disease
References
  • MESH:D016464
  • NCI:C61250
  • SNOMEDCT_US_2023_03_01:23585005
  • UMLS_CUI:C0085078
Ontology
Human Disease   ( DOID:3211 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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