Term Name: | familial GPIHBP1 deficiency |
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Synonyms: | familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency, hyperlipoproteinemia type 1D, hyperlipoproteinemia type ID |
Definition: | A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. |
Ontology: | Human Disease [DOID:0111420] ( DOID:0111420 ) |