Preferred Name |
lysosomal storage disease |
|
Synonyms |
disorder of lysosomal enzyme (disorder) lysosomal storage metabolism disorder inborn lysosomal enzyme disorder |
|
Definitions |
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
|
ID |
http://purl.obolibrary.org/obo/DOID_3211 |
|
database_cross_reference |
NCI:C61250 SNOMEDCT_US_2016_03_01:23585005 MESH:D016464 UMLS_CUI:C0085078 |
|
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 (disorder) lysosomal storage metabolism disorder inborn lysosomal enzyme disorder |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:3211 |
|
imported from | ||
in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
label |
lysosomal storage disease |
|
notation |
DOID:3211 |
|
prefLabel |
lysosomal storage disease |
|
subClassOf |