Term Name: | familial apolipoprotein A5 deficiency |
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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. |
Ontology: | Human Disease [DOID:0111421] ( DOID:0111421 ) |