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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 xref: NCI:C98647
For additional species annotation, visit the Alliance of Genome Resources.


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very long chain acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadl acyl-CoA dehydrogenase, long chain ISO
ISS
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
OMIM:201475
ClinVar
MouseDO
NCBI chr 9:73,833,368...73,871,857
Ensembl chr 9:73,833,388...73,871,888
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar Annotator: match by OMIM:201475
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:609575, PMID:2006090, PMID:4022672, PMID:7479827, PMID:7668252, PMID:7769092, PMID:8554073, PMID:8739957, PMID:8845838, PMID:9546340, PMID:9599005, PMID:9709714, PMID:9839948, PMID:9973285, PMID:10077518, PMID:10384387, PMID:10431122, PMID:10529389, PMID:10738914, PMID:10790204, PMID:11158518, PMID:11349232, PMID:11590124, PMID:11914034, PMID:12122118, PMID:12208138, PMID:12213615, PMID:12893739, PMID:14517516, PMID:15210884, PMID:16435213, PMID:16443431, PMID:16464760, PMID:16488171, PMID:16860141, PMID:16950999, PMID:16982043, PMID:17206456, PMID:17374501, PMID:17514507, PMID:17999356, PMID:18227065, PMID:18414213, PMID:18670371, PMID:19208414, PMID:19327992, PMID:20060901, PMID:20107901, PMID:20301763, PMID:20480395, PMID:20694756, PMID:21228398, PMID:21378393, PMID:21429517, PMID:21531094, PMID:21814341, PMID:21932095, PMID:22841441, PMID:22847164, PMID:23169530, PMID:23418865, PMID:23430948, PMID:23430950, PMID:23480858, PMID:23700290, PMID:23774949, PMID:23798014, PMID:23867825, PMID:24033266, PMID:24263034, PMID:24305961, PMID:24503138, PMID:24801231, PMID:24898617, PMID:25085675, PMID:25087612, PMID:25214167, PMID:25242572, PMID:25338548, PMID:25456746, PMID:25525159, PMID:25652019, PMID:25655073, PMID:25741868, PMID:25834949, PMID:25843429, PMID:26182500, PMID:26385305, PMID:26453363, PMID:26881790, PMID:26927351, PMID:26937394, PMID:27029698, PMID:27209629, PMID:27246109, PMID:27538624, PMID:27943070, PMID:27995075, PMID:28468868, PMID:28492532, PMID:28747690, PMID:28755359, PMID:28871440, PMID:29111448, PMID:29552494, PMID:29961767, PMID:30023301, PMID:30194637, PMID:30311386, PMID:30950014, PMID:31620161, PMID:32581362, PMID:32860008 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285, PMID:11590124, PMID:23480858, PMID:25741868, PMID:28492532 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          very long chain acyl-CoA dehydrogenase deficiency 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                very long chain acyl-CoA dehydrogenase deficiency 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.