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ONTOLOGY REPORT - ANNOTATIONS


Term:Familial Hypobetalipoproteinemia, Apolipoprotein B
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Accession:DOID:9002123 term browser browse the term
Definition: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.
Synonyms:exact_synonym: Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type;   Apolipoprotein B Deficiencies;   Apolipoprotein B Deficiency;   Apolipoprotein B Deficiency Disease;   Hypobetalipoproteinemia, Familial, Apo B
 primary_id: MESH:D052476;   RDO:0007592
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Familial Hypobetalipoproteinemia, Apolipoprotein B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:11554173
familial hypobetalipoproteinemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    Nutritional and Metabolic Diseases 4395
      disease of metabolism 4395
        lipid metabolism disorder 751
          hypolipoproteinemia 15
            hypobetalipoproteinemia 10
              Familial Hypobetalipoproteinemia, Apolipoprotein B 1
                familial hypobetalipoproteinemia 1 1
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          inherited metabolic disorder 1899
            lipid metabolism disorder 751
              Dyslipidemias 283
                hypolipoproteinemia 15
                  hypobetalipoproteinemia 10
                    Familial Hypobetalipoproteinemia, Apolipoprotein B 1
                      familial hypobetalipoproteinemia 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.