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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: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 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        lipid metabolism disorder 906
          very long chain acyl-CoA dehydrogenase deficiency 3
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                very long chain acyl-CoA dehydrogenase deficiency 3
paths to the root