| Metadata | |
|---|---|
| ID | DOID:0111369 |
| Name | hyperalphalipoproteinemia 1 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/2215607, https://www.ncbi.nlm.nih.gov/pubmed/6738363 |
| Xrefs |
SNOMEDCT_US_2023_03_01:238080004 |
| Subsets |
NCIthesaurus |
| Synonyms |
HALP1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |