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loading...| Preferred Name |
Tangier Disease |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85182 |
| code |
C85182 |
| DEFINITION |
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. |
| label |
Tangier Disease |
| Preferred_Name |
Tangier Disease |
| prefixIRI |
C85182 |
| prefLabel |
Tangier Disease |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0039292 |
| subClassOf |