| Metadata | |
|---|---|
| ID | DOID:0080957 |
| Name | primary hypoalphalipoproteinemia 1 |
| 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. https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
familial HDL deficiency [EXACT] familial hypoalphalipoproteinemia [EXACT] |
| Parent Relationships |
is_a hypolipoproteinemia |