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
Accession: DOID:9004345
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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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 PMID:16857760 PMID:17304052 PMID:17576681 PMID:17924841 PMID:21109224 PMID:23255084 PMID:24635911 PMID:25333069 PMID:25689098 PMID:25741868 PMID:28053874 PMID:28492532 PMID:30253142 PMID:30626930 PMID:31813752 PMID:32778825 PMID:33432785 PMID:34544473 PMID:35154245 More...
NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414
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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
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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
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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
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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
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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
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