primary hypoalphalipoproteinemia 1

Summary

DOID:0080957 - primary hypoalphalipoproteinemia 1

Disease Ontology Definition:A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease.

Synonyms: familial HDL deficiency, familial hypoalphalipoproteinemia

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: apoa1, abca1

MIM:

MIM:604091 - HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1

MIM:604091 - HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): hypolipoproteinemia (is_a)