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DOID:0111420 - familial GPIHBP1 deficiency
Disease Ontology 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.
Synonyms: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency, hyperlipoproteinemia type 1D, hyperlipoproteinemia type ID,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee