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ONTOLOGY REPORT - ANNOTATIONS


Term:familial GPIHBP1 deficiency
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Accession:DOID:0111420 term browser browse the term
Definition:A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in GPIHBP1 on chromosome 8q24.3. (DO)
Synonyms:exact_synonym: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency;   hyperlipoproteinemia type 1D;   hyperlipoproteinemia type ID
 primary_id: OMIM:615947
 xref: ORDO:535458
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familial GPIHBP1 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 JBrowse link 7 116,632,496 116,635,543 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 741
          familial hyperlipidemia 261
            Hyperlipoproteinemias 34
              familial GPIHBP1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            lipid metabolism disorder 741
              Dyslipidemias 282
                familial hyperlipidemia 261
                  familial chylomicronemia syndrome 5
                    familial lipoprotein lipase deficiency 3
                      familial GPIHBP1 deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.