Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption. [ Orphanet:75234 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:14502 (MONDO:equivalentTo)
  • Orphanet:75234 (MONDO:equivalentTo)
  • SCTID:57218003 (MONDO:equivalentTo)
  • ICD10:E75.5 (Orphanet:75234)
  • GARD:0012099 (Orphanet-shared)
  • UMLS:C0008384 (Orphanet:75234)
Subsets

ordo_clinical_subtype

abbreviation
CESD [ GARD:0012099 ]

closeMatch

http://identifiers.org/mesh/D015217

definition

Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0008384

http://www.orpha.net/ORDO/Orphanet_75234

http://purl.obolibrary.org/obo/DOID_14502

http://identifiers.org/snomedct/57218003

has exact synonym

cholesterol ester storage disease

id

MONDO:0019149

Term relations