Human genes for Tangier disease
Tangier disease [DOID:1388]
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.
Synonyms: Tangier disease, DOID:1388, Tangier disorder, Tangier syndrome, Tangier diseases ...