Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	lysosomal storage disease
Synonyms	lysosomal storage metabolism 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 MESH:D016464 SNOMEDCT_US_2022_09_01:23585005 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	lysosomal storage metabolism disorder disorder of lysosomal enzyme inborn lysosomal enzyme disorder
has_obo_namespace	disease_ontology
id	DOID:3211
in_subset	http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	lysosomal storage disease
notation	DOID:3211
prefLabel	lysosomal storage disease
subClassOf	http://purl.obolibrary.org/obo/DOID_655

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250	National Cancer Institute Thesaurus	LOOM