Term Name: Tangier disease
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 )

Relationships
is a type of: hypolipoproteinemia