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ONTOLOGY REPORT - ANNOTATIONS


Term:hypobetalipoproteinemia
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Accession:DOID:1390 term browser browse the term
Definition:Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.
Synonyms:exact_synonym: FHBL;   Familial Hypobetalipoproteinemia;   hypo beta lipoproteinemia;   hypo beta lipoproteinemias;   hypobetalipoproteinemias
 primary_id: MESH:D006995
 alt_id: RDO:0000586
For additional species annotation, visit the Alliance of Genome Resources.


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hypobetalipoproteinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:1601203
RGD:8554872
RGD:1599164
G Apoc2 apolipoprotein C2 JBrowse link 1 80,589,023 80,593,991 RGD:1601212
G Pcsk9 proprotein convertase subtilisin/kexin type 9 JBrowse link 5 126,031,368 126,053,726 RGD:1580999
RGD:8554872
abetalipoproteinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Mttp microsomal triglyceride transfer protein JBrowse link 2 243,366,181 243,407,608 RGD:1581045
RGD:8554872
RGD:7240710
RGD:1581043
RGD:1581044
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:8554872
chylomicron retention disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitpna phosphatidylinositol transfer protein, alpha JBrowse link 10 63,731,767 63,772,049 RGD:13592920
G Sar1b secretion associated, Ras related GTPase 1B JBrowse link 10 37,215,989 37,245,603 RGD:7240710
RGD:8554872
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
familial hypobetalipoproteinemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angptl3 angiopoietin-like 3 JBrowse link 5 117,698,590 117,706,729 RGD:7240710
RGD:8554872
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:13592920
G Dock7 dedicator of cytokinesis 7 JBrowse link 5 117,595,194 117,780,844 RGD:8554872
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 748
          hypolipoproteinemia 15
            hypobetalipoproteinemia 10
              Familial Hypobetalipoproteinemia, Apolipoprotein B + 1
              Nguyen Syndrome 0
              abetalipoproteinemia + 3
              chylomicron retention disease 2
              familial hypobetalipoproteinemia 1 1
              familial hypobetalipoproteinemia 2 3
Path 2
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          inherited metabolic disorder 1895
            lipid metabolism disorder 748
              Dyslipidemias 281
                hypolipoproteinemia 15
                  hypobetalipoproteinemia 10
                    Familial Hypobetalipoproteinemia, Apolipoprotein B + 1
                    Nguyen Syndrome 0
                    abetalipoproteinemia + 3
                    chylomicron retention disease 2
                    familial hypobetalipoproteinemia 1 1
                    familial hypobetalipoproteinemia 2 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.