| Metadata | |
|---|---|
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |