hypobetalipoproteinemia
Information
- Disease name
- hypobetalipoproteinemia
- Disease ID
- DOID:1390
- Description
- "A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats." [url:https\://en.wikipedia.org/wiki/Hypobetalipoproteinemia, url:https\://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia, url:https\://www.ncbi.nlm.nih.gov/pubmed/15818469]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02354079 | Active, not recruiting | N/A | HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism | January 7, 2016 | January 7, 2032 |
| NCT00005565 | Completed | Mechanisms of Low Levels of Apolipoprotein B | August 1997 | June 2002 | |
| NCT02889614 | Completed | Prevalence Assessment and Characterization of Psychological Disorders Associated With Hypobetalipoproteinemia | May 2015 | July 31, 2015 |
- Disase is a (Disease Ontology)
- DOID:1387
- Cross Reference ID (Disease Ontology)
- MESH:D006995
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190786004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0020597
- Exact Synonym (Disease Ontology)
- Hypo-beta-lipoproteinemia
- OrphaNumber from OrphaNet (Orphanet)
- 31154
- MedGen concept unique identifier (MedGen Concept name)
- C0020597
- MedGen unique identifier (MedGen Concept name)
- 6978