Term Name: | hyperalphalipoproteinemia 1 |
---|---|
Synonyms: | HALP1 |
Definition: | A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. |
Ontology: | Human Disease [DOID:0111369] ( DOID:0111369 ) |