Metadata | |
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ID | DOID:0111370 |
Name | apolipoprotein C-III deficiency |
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 APOC3 gene on chromosome 11q23.3. https://www.ncbi.nlm.nih.gov/pubmed/2022742 |
Xrefs | |
Synonyms |
HALP2 [EXACT] hyperalphalipoproteinemia 2 [EXACT] |
Parent Relationships |