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ONTOLOGY REPORT - ANNOTATIONS


Term:very long chain acyl-CoA dehydrogenase deficiency
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Accession:DOID:0080155 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. (DO)
Synonyms:exact_synonym: ACADVL;   ACADVLD;   VLCAD deficiency;   VLCAD-H;   Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency;   Vlcad-C;   deficiency of very long-chain Acyl-CoA dehydrogenase
 related_synonym: exercise induced metabolic myopathy
 primary_id: MESH:C536353
 alt_id: OMIA:002140;   OMIM:201475;   RDO:0001906
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very long chain acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadl acyl-CoA dehydrogenase, long chain JBrowse link 9 73,833,368 73,871,857 RGD:8554872
RGD:13592920
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:7240710
RGD:8554872
RGD:11554173
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        lipid metabolism disorder 736
          very long chain acyl-CoA dehydrogenase deficiency 3
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                very long chain acyl-CoA dehydrogenase deficiency 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.