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ONTOLOGY REPORT - ANNOTATIONS


Term:familial apolipoprotein C-II deficiency
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Accession:DOID:0111418 term browser browse the term
Definition:A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32. (DO)
Synonyms:exact_synonym: APOC2 DEFICIENCY;   Apolipoprotein C II Deficiency;   Apolipoprotein C-II Deficiencies;   Hyperlipoproteinemia Type Ib;   Type Ib Hyperlipoproteinemias;   familial APOC2 deficiency;   familial apoC-II deficiency;   hyperlipoproteinemia, type 1b
 primary_id: OMIM:207750
 xref: ORDO:309020
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familial apolipoprotein C-II 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:7240710

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Path 1
Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        lipid metabolism disorder 736
          familial hyperlipidemia 260
            familial chylomicronemia syndrome 5
              familial apolipoprotein C-II deficiency 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          inherited metabolic disorder 1877
            lipid metabolism disorder 736
              Dyslipidemias 281
                familial hyperlipidemia 260
                  familial chylomicronemia syndrome 5
                    familial apolipoprotein C-II 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.