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Term:familial hypobetalipoproteinemia 1
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Accession:DOID:0111062 term browser browse the term
Definition:A hypobetalipoproteinemia that has material_basis_in mutation in the APOB gene on chromosome 2p24. (DO)
Synonyms:exact_synonym: Acanthocytosis with Hypobetalipoproteinemia;   FHBL1;   Hypobetalipoproteinemia, Normotriglyceridemic
 narrow_synonym: Hypobetalipoproteinemia, familial, associated with apob32
 primary_id: MESH:C566267
 alt_id: OMIM:615558;   RDO:0014668
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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

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 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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