Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
familial apolipoprotein A5 deficiency
Summary
- Synonym
-
- familial APOA5 deficiency
- familial apolipoprotein A-V deficiency
- Definition
- A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3.
- Super Class
- autosomal dominant disease familial chylomicronemia syndrome
External Links
- Disease Ontology
- DOID:0111421
- Mondo Disease Ontology
- ORDO
- OMIM
