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ONTOLOGY REPORT - ANNOTATIONS


Term:familial apolipoprotein A5 deficiency
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Accession:DOID:0111421 term browser browse the term
Definition:A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in APOA5 on chromosome 11q23.3. (DO)
Synonyms:exact_synonym: familial APOA5 deficiency;   familial apolipoprotein A-V deficiency
 primary_id: OMIM:144650
 xref: ORDO:530849
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familial apolipoprotein A5 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa5 apolipoprotein A5 JBrowse link 8 50,559,079 50,561,720 RGD:7240710

Term paths to the root
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
            familial chylomicronemia syndrome 5
              familial apolipoprotein A5 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 apolipoprotein A5 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.