JSON

lysosomal lipid storage disorder

Go to external page http://purl.obolibrary.org/obo/MONDO_0019245

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. [ http://en.wikipedia.org/wiki/Lipid_storage_disorder http://www.ncbi.nlm.nih.gov/pubmed/21502308 ]

Synonyms: lipid storage disease lipoid storage diseas inborn lipid storage disorder lipoid storage disorder lipoid storage disease rare inborn error of lipid storage inborn error of lipid storage

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:79204 (MONDO:equivalentTo)
  • MESH:D008064 (MONDO:equivalentTo)
  • SCTID:10741005 (MONDO:equivalentTo)
  • DOID:9455 (MONDO:equivalentTo)
  • GARD:12511 (MONDO:GARD)
  • ICD9:272.8 (DOID:9455)
  • UMLS:C0023794 (MONDO:equivalentTo)
  • ICD9:272.7 (MONDO:i2s)
  • MEDGEN:9780 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, ordo_group_of_disorders

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml

exactMatch

http://identifiers.org/mesh/D008064

http://www.orpha.net/ORDO/Orphanet_79204

http://identifiers.org/medgen/9780

http://identifiers.org/snomedct/10741005

http://purl.obolibrary.org/obo/DOID_9455

http://linkedlifedata.com/resource/umls/id/C0023794

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019255

has related synonym

lipoidosis

lipidoses

lipidosis

lipoidoses

id

MONDO:0019245