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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:Isobutyryl-CoA Dehydrogenase Deficiency
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Accession:DOID:9004345 term browser browse the term
Synonyms:exact_synonym: ACAD8 deficiency;   Acyl-CoA dehydrogenase family, member 8, deficiency of;   DEFICIENCY OF ISOBUTYRYL-COA DEHYDROGENASE;   IBD DEFICIENCY;   IBDD;   isobutyryl-coenzyme A dehydrogenase deficiency
 primary_id: MESH:C535541
 alt_id: OMIM:611283
 xref: NCI:C129975



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Isobutyryl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase
OMIM
CTD
ClinVar
PMID:9536098 PMID:9889013 PMID:12359132 PMID:15505379 PMID:16199547 More... NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
JBrowse link
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 8:25,406,563...25,415,445
Ensembl chr 8:25,406,500...25,415,445
JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        inherited metabolic disorder 6208
          amino acid metabolic disorder 1524
            Isobutyryl-CoA Dehydrogenase Deficiency 6
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            amino acid metabolic disorder 1524
              Isobutyryl-CoA Dehydrogenase Deficiency 6
paths to the root