Terminology Service for NFDI4Health

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

Term info

Label

lysosomal lipid storage disorder

Synonyms
  • inborn error of lipid storage
  • inborn lipid storage disorder
  • lipid storage disease
  • lipoid storage diseas
  • lipoid storage disease
  • lipoid storage disorder
  • rare inborn error of lipid storage
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

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 related synonym

lipoidosis, lipidoses, lipidosis, lipoidoses

id

MONDO:0019245

narrowMatch

https://icd.codes/icd10cm/E75.5, https://icd.codes/icd10cm/E75.6