hyperalphalipoproteinemia 1
Information
- Disease name
- hyperalphalipoproteinemia 1
- Disease ID
- DOID:0111369
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2215607, url:https\://www.ncbi.nlm.nih.gov/pubmed/6738363]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0111368
- Cross Reference ID (Disease Ontology)
- MESH:C564591
- Cross Reference ID (Disease Ontology)
- MIM:143470
- Cross Reference ID (Disease Ontology)
- NCI:C128806
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:238080004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0342883
- Exact Synonym (Disease Ontology)
- HALP1