Term Name: | Tangier disease |
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Synonyms: | familial alpha-lipoprotein deficiency, familial high density lipoprotein deficiency, familial hypoalphalipoproteinemia |
Definition: | A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. |
Ontology: | Human Disease [DOID:1388] ( DOID:1388 ) |