Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues. [ Orphanet:75233 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0007899 (Orphanet-shared)
  • ICD10:E75.5 (Orphanet:75233)
  • UMLS:C0043208 (Orphanet:75233)
  • MedDRA:10053687 (Orphanet:75233)
  • MESH:D015223 (Orphanet:75233)
  • SCTID:238074007 (MONDO:possiblyEquivalent)
  • SCTID:82500001 (MONDO:equivalentTo)
  • DOID:14497 (MONDO:equivalentTo)
  • NCIT:C61271 (MONDO:equivalentTo)
  • UMLS:CN438428 (MONDO:equivalentTo)
  • Orphanet:75233 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

closeMatch

http://identifiers.org/snomedct/190795007

http://identifiers.org/snomedct/190797004

http://identifiers.org/snomedct/238074007

http://identifiers.org/snomedct/37896002

definition

Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.

exactMatch

http://purl.obolibrary.org/obo/DOID_14497

http://linkedlifedata.com/resource/umls/id/C0043208

http://identifiers.org/meddra/10053687

http://purl.obolibrary.org/obo/NCIT_C61271

http://linkedlifedata.com/resource/umls/id/CN438428

http://identifiers.org/mesh/D015223

http://identifiers.org/snomedct/82500001

http://www.orpha.net/ORDO/Orphanet_75233

excluded from QC check

http://purl.obolibrary.org/obo/mondo/sparql/single-child-tags.sparql

has exact synonym

Wolman disease

Wolman xanthomatosis

acid esterase deficiency

Wolman's or triglyceride storage type III disease

Wolman's disease

xanthomatosis, familial

lysosomal acid lipase deficiency

acid lipase deficiency

has related synonym

liposomal acid lipase deficiency, Wolman type

deficiency of cholesterol esterase and triacylglycerol lipase

familial visceral xanthomatosis

primary familial xanthomatosis

primary familial xanthomatosis with adrenal calcification

familial xanthomatosis

id

MONDO:0019148

Term relations