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Human Disease

familial apolipoprotein A5 deficiency

Term ID
DOID:0111421
Synonyms
  • 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. (2)
References
Ontology
Human Disease   ( DOID:0111421 )
Relationships
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Genes Involved
Zebrafish Models