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ONTOLOGY REPORT - ANNOTATIONS


Term:familial hypobetalipoproteinemia 2
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Accession:DOID:0111061 term browser browse the term
Definition:A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: Fhbl2;   HYPOLIPIDEMIA, FAMILIAL, COMBINED
 primary_id: MESH:C565732
 alt_id: OMIM:605019;   RDO:0014290
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15469
    Nutritional and Metabolic Diseases 4381
      disease of metabolism 4381
        lipid metabolism disorder 744
          hypolipoproteinemia 14
            hypobetalipoproteinemia 9
              familial hypobetalipoproteinemia 2 3
Path 2
Term Annotations click to browse term
  disease 15469
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7614
        genetic disease 7099
          inherited metabolic disorder 1887
            lipid metabolism disorder 744
              Dyslipidemias 281
                hypolipoproteinemia 14
                  hypobetalipoproteinemia 9
                    familial hypobetalipoproteinemia 2 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.