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Tangier disease

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.
Uniprot Description Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness.
Mondo Term and Equivalent IDs
MONDO:0008783:  Tangier disease
GARD:0007731: 
MESH:D013631: 
NCIT:C85182: 
Orphanet:31150: 
SCTID:723579009: 
UMLS:C0039292: