Terminology Service for NFDI4Health

Tangier Disease

Go to external page 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