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ONTOLOGY REPORT - ANNOTATIONS


Term:familial lipoprotein lipase deficiency
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Accession:DOID:14118 term browser browse the term
Definition:An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.
Synonyms:exact_synonym: Burger Grutz Syndrome;   Burger-Grutz syndromes;   C-II Anapolipoproteinemia;   C-II anapolipoproteinemias;   Essential Familial Hyperlipemia;   Essential Familial Hyperlipemias;   Familial Chylomicronemia;   Familial Chylomicronemias;   Familial Fat Induced Hypertriglyceridemia;   Familial Fat-Induced Hypertriglyceridemias;   Familial Hyperchylomicronemia;   Familial Hyperchylomicronemias;   Familial Hyperlipoproteinemia Type 1;   Familial LPL Deficiencies;   Familial LPL Deficiency;   Fredrickson type I hyperlipoproteinemia;   Fredrickson type I lipaemia;   Hyperlipemia, Idiopathic, Burger-Grutz Type;   Hyperlipoproteinemia Type I;   Hyperlipoproteinemia Type Ia;   LIPD Deficiencies;   LIPD Deficiency;   LPL DEFICIENCY;   Lipase D Deficiencies;   Lipase D Deficiency;   Lipoprotein Lipase Deficiencies;   Lipoprotein Lipase Deficiency;   Type Ia Hyperlipoproteinemias;   familial chylomiconemia syndrome;   familial hyperlipoproteinemia type I;   hypercholesterinaemic xanthomatosis;   hyperchylomicronemia;   hyperlipoproteinemias type I;   mixed hyperglyceridemia
 primary_id: MESH:D008072
 alt_id: OMIM:238600;   RDO:0002548
 xref: GARD:12241;   ICD10CM:E78.3;   ICD9CM:272.3;   NCI:C84771;   ORDO:309015
For additional species annotation, visit the Alliance of Genome Resources.


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familial lipoprotein lipase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoc2 apolipoprotein C2 JBrowse link 1 80,589,023 80,593,991 RGD:8554872
RGD:11554173
G Lpl lipoprotein lipase JBrowse link 16 22,537,687 22,561,487 RGD:1580533
RGD:7240710
RGD:8554872
RGD:1302536
RGD:1556752
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        lipid metabolism disorder 740
          familial hyperlipidemia 260
            Hyperlipoproteinemias 34
              familial lipoprotein lipase deficiency 3
                Familial Hyperchylomicronemia Syndrome 0
                familial GPIHBP1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          inherited metabolic disorder 1884
            lipid metabolism disorder 740
              Dyslipidemias 281
                familial hyperlipidemia 260
                  familial chylomicronemia syndrome 5
                    familial lipoprotein lipase deficiency 3
                      Familial Hyperchylomicronemia Syndrome 0
                      familial GPIHBP1 deficiency 1
paths to the root

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