Term Name: familial GPIHBP1 deficiency
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 )

Relationships
is a type of: autosomal recessive disease familial chylomicronemia syndrome