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Disease Ontology Browser
familial GPIHBP1 deficiency (DOID:0111420)
Alliance: disease page
Synonyms: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency; hyperlipoproteinemia type 1D; hyperlipoproteinemia type ID
Alt IDs: OMIM:615947, ORDO:535458
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory