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

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:79204 (MONDO:equivalentTo)
  • MESH:D008064 (MONDO:equivalentTo)
  • ICD10:E75.6 (Orphanet:79204)
  • DOID:9455 (MONDO:equivalentTo)
  • ICD9:272.8 (DOID:9455)
  • SCTID:10741005 (MONDO:equivalentTo)
  • UMLS:CN205834 (MONDO:equivalentTo)
  • ICD9:272.7 (i2s)
  • ICD10:E75.5 (Orphanet:79204)
Subsets

ordo_group_of_disorders

closeMatch

http://identifiers.org/snomedct/190798009

http://linkedlifedata.com/resource/umls/id/C0029591

http://identifiers.org/snomedct/267437005

http://identifiers.org/snomedct/190797004

http://identifiers.org/snomedct/190805007

http://identifiers.org/snomedct/154744007

http://identifiers.org/snomedct/267438000

http://identifiers.org/snomedct/190792005

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

http://identifiers.org/snomedct/11455007

conformsTo

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

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

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.

exactMatch

http://identifiers.org/mesh/D008064

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

http://linkedlifedata.com/resource/umls/id/CN205834

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

http://identifiers.org/snomedct/10741005

excluded subClassOf

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

has exact synonym

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

has related synonym

lipoidosis

lipidoses

lipidosis

lipoidoses

id

MONDO:0019245