Search Ontology:
Human Disease
familial GPIHBP1 deficiency
- Term ID
- DOID:0111420
- 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. (2)
- References
-
- MIM:615947
- ORDO:535458
- Ontology
- Human Disease ( DOID:0111420 )
- is a type of
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Genes Involved
Zebrafish Models