Term Name: | primary hypoalphalipoproteinemia 1 |
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Synonyms: | familial HDL deficiency |
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. |
Ontology: | Human Disease [DOID:0080957] ( DOID:0080957 ) |