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Summary Literature (0)
DOID:1388 - Tangier disease

Disease Ontology 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.

Synonyms: familial alpha-lipoprotein deficiency, familial high density lipoprotein deficiency, familial hypoalphalipoproteinemia

Xenbase Genes : abca1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008783 - Tangier disease


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): hypolipoproteinemia (is_a)