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

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D016464
  • SNOMEDCT_US_2021_09_01:23585005
  • NCI:C61250
  • UMLS_CUI:C0085078
Subsets

DO_FlyBase_slim, NCIthesaurus

definition

An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.

has exact synonym

disorder of lysosomal enzyme

lysosomal storage metabolism disorder

inborn lysosomal enzyme disorder

has obo namespace

disease_ontology

id

DOID:3211

Term relations