Kidney Tissue Atlas Ontology - lysosomal lipid storage disorder - Classes | NCBO BioPortal

Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024

Id	http://purl.obolibrary.org/obo/MONDO_0019245 http://purl.obolibrary.org/obo/MONDO_0019245
Preferred Name	lysosomal lipid storage disorder
Definitions	An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.
Synonyms	lipidoses lipidosis lipoidoses lipoidosis lipid storage disease lipoid storage disorder rare inborn error of lipid storage inborn error of lipid storage lipoid storage diseas lipoid storage disease inborn lipid storage disorder See more See less
Type	http://www.w3.org/2002/07/owl#Class

label	lysosomal lipid storage disorder
prefLabel	lysosomal lipid storage disorder
exactMatch	http://identifiers.org/mesh/D008064 http://identifiers.org/snomedct/10741005 http://www.orpha.net/ORDO/Orphanet_79204 http://linkedlifedata.com/resource/umls/id/CN205834 http://purl.obolibrary.org/obo/DOID_9455
database_cross_reference	MESH:D008064 ICD10:E75.6 ICD9:272.7 ICD10:E75.5 Orphanet:79204 DOID:9455 SCTID:10741005 UMLS:CN205834 ICD9:272.8 See more See less
notation	MONDO:0019245
in_subset	http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders
has related synonym	lipidoses lipidosis lipoidoses lipoidosis
id	MONDO:0019245
disease has basis in disruption of	http://purl.obolibrary.org/obo/GO_0019915
disease causes disruption of	http://purl.obolibrary.org/obo/GO_0016042 http://purl.obolibrary.org/obo/GO_0019915
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0019255
textual definition	An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0002525 http://purl.obolibrary.org/obo/MONDO_0002561 http://purl.obolibrary.org/obo/MONDO_0019052
imported from	http://purl.obolibrary.org/obo/mondo.owl
closeMatch	http://identifiers.org/snomedct/154744007 http://identifiers.org/snomedct/11455007 http://identifiers.org/snomedct/267437005 http://identifiers.org/snomedct/190798009 http://identifiers.org/snomedct/190792005 http://identifiers.org/snomedct/190797004 http://identifiers.org/snomedct/267438000 http://identifiers.org/snomedct/190805007 http://linkedlifedata.com/resource/umls/id/C0023794 http://linkedlifedata.com/resource/umls/id/C0029591 See more See less
type	http://www.w3.org/2002/07/owl#Class
conformsTo	http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml
has exact synonym	lipid storage disease lipoid storage disorder rare inborn error of lipid storage inborn error of lipid storage lipoid storage diseas lipoid storage disease inborn lipid storage disorder See more See less

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display