JSON

lysosomal lipid storage disorder

^ 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. [ PMID:21502308 Wikipedia:Lipid_storage_disorder ]

Term info

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

disease_grouping, ordo_group_of_disorders

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://linkedlifedata.com/resource/umls/id/CN205834, http://purl.obolibrary.org/obo/DOID_9455, http://identifiers.org/snomedct/10741005, http://purl.obolibrary.org/obo/Orphanet_79204

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