ZFIN Human Disease: familial GPIHBP1 deficiency

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 the GPIHBP1 gene on chromosome 8q24.3. (2)
References:	OMIM:615947 ORDO:535458
Ontology:	Human Disease ( DOID:0111420 )

Relationships

is a type of:	autosomal recessive disease familial chylomicronemia syndrome autosomal recessive disease familial chylomicronemia syndrome Show first 5 Terms

OTHER familial GPIHBP1 deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GPIHBP1		Hyperlipoproteinemia, type 1D

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None