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 ]
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
Term information
- Orphanet:79204 (MONDO:equivalentTo)
- DOID:9455 (MONDO:equivalentTo)
- GARD:12511 (Orphanet:79204)
- ICD9:272.8 (DOID:9455)
- ICD9:272.7 (MONDO:i2s)
- UMLS:C0023794 (MONDO:notFoundInDiseaseSubset)
- MESH:D008064 (MONDO:equivalentTo)
- SCTID:10741005 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders
http://identifiers.org/mesh/D008064
http://www.orpha.net/ORDO/Orphanet_79204
http://identifiers.org/snomedct/10741005
http://purl.obolibrary.org/obo/DOID_9455
http://linkedlifedata.com/resource/umls/id/C0023794