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Concept information

Preferred term

Hypobetalipoproteinemia, Familial, Apolipoprotein B  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type
  • Apolipoprotein B Deficiencies
  • Apolipoprotein B Deficiency
  • Apolipoprotein B Deficiency Disease
  • Hypobetalipoproteinemia, Familial, Apo B

Scope note

  • An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.

History note

  • 2007; for APOLIPOPROTEIN B DEFICIENCY DISEASE use ABETALIPOPROTEINEMIA 2000-2006

URI

http://www.yso.fi/onto/mesh/D052476

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