lysosomal storage disease

lysosomal storage disease

http://purl.obolibrary.org/obo/DOID_3211

An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. [ http://purl.obolibrary.org/obo/ECO_0007638 url:http://en.wikipedia.org/wiki/Lysosomal_storage_disease ]

Synonyms: lysosomal storage metabolism disorder disorder of lysosomal enzyme inborn lysosomal enzyme disorder

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database cross reference

UMLS_CUI:C0085078
SNOMEDCT_US_2023_03_01:23585005
MESH:D016464
NCI:C61250

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disease_ontology

DOID:3211

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Subclass of:

inherited metabolic disorder