OBO ID: DOID:0111420
Term Name: familial GPIHBP1 deficiency Search Ontology:
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 GPIHBP1 on chromosome 8q24.3. (2)
References:
Ontology: Human Disease   (DOID:0111420)
OTHER familial GPIHBP1 deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GPIHBP1 Hyperlipoproteinemia, type 1D 615947
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None