Tangier Disease
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http://purl.obolibrary.org/obo/NCIT_C85182
A rare, autosomal recessive inherited disorder of cholesterol transport, resulting in severe reduction of the amount of high density lipoprotein in the plasma and accumulation of cholesterol esters in the tissues. Signs and symptoms include large tonsils, hepatosplenomegaly, lymphadenopathy, and hypocholesterolemia. [ ]
Term info
Label
Tangier Disease
Synonyms
- Tangier Disease
Preferred Name
Tangier Disease
Semantic Type
Disease or Syndrome
UMLS CUI
C0039292
code
C85182