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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:0008783 - dorsal venous arch |
| MIM:205400 - TANGIER DISEASE; TGD |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hypolipoproteinemia (is_a)