- Concept UI
- M0023386
- Scope Note
- The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
- Terms
-
Wolman Disease
Preferred Term
Term UI
T044530
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
Term UI
T750589
Date05/05/2009
LexicalTag
EPO
ThesaurusID
-
Acid Lipase Deficiency
Term UI
T842715
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Cholesterol ester hydrolase deficiency
Term UI
T727667
Date09/25/2008
LexicalTag
NON
ThesaurusID
-
Familial Xanthomatosis
Term UI
T842716
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
LAL Deficiency
Term UI
T727665
Date09/25/2008
LexicalTag
ABX
ThesaurusID
-
LIPA Deficiency
Term UI
T001137358
Date05/09/2023
LexicalTag
ABX
ThesaurusID
NLM (2024)
-
Liposomal Acid Lipase Deficiency, Wolman Type
Term UI
T645913
Date07/15/2005
LexicalTag
EPO
ThesaurusID
-
Lysosomal Acid Lipase Deficiency
Term UI
T001137355
Date05/09/2023
LexicalTag
NON
ThesaurusID
NLM (2024)
-
Wolman Disease with Hypolipoproteinemia and Acanthocytosis
Term UI
T830038
Date09/21/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Wolman's Disease
Term UI
T044529
Date05/12/1988
LexicalTag
EPO
ThesaurusID
UNK (19XX)
-
Xanthomatosis, Familial
Term UI
T044528
Date05/12/1988
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Xanthomatosis, Wolman's
Term UI
T044531
Date05/12/1988
LexicalTag
EPO
ThesaurusID
UNK (19XX)