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DO Term : familial GPIHBP1 deficiency [DOID:0111420] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • hyperlipoproteinemia type ID,
  • hyperlipoproteinemia type 1D,
  • OMIM:615947,
  • ORDO:535458,
  • familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency,
  • 615947
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents