Search on: HYPOBETALIPOPROTEINEMIA, FAMILIAL, APOLIPOPROTEIN B 
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Descriptor English:   Hypobetalipoproteinemia, Familial, Apolipoprotein B 
Descriptor Spanish:   Hipobetalipoproteinemia Familiar por Apolipoproteína B 
Descriptor Portuguese:   Hipobetalipoproteinemia Familiar por Apolipoproteína B 
Synonyms English:   Apolipoprotein B Deficiency  
Tree Number:   C18.452.584.500.875.440.750
Definition English:   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 English:   2007; for APOLIPOPROTEIN B DEFICIENCY DISEASE use ABETALIPOPROTEINEMIA 2000-2006 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   52152 
Unique Identifier:   D052476 

Occurrence in VHL:
 

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