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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:611283
ClinVar Annotator: match by term: ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF
ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase
OMIM
ClinVar
PMID:9536098 PMID:9889013 PMID:12359132 PMID:15505379 PMID:16857760 PMID:17304052 PMID:17576681 PMID:17924841 PMID:24635911 PMID:25333069 PMID:25689098 PMID:25741868 PMID:28492532 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            Isobutyryl-CoA Dehydrogenase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            amino acid metabolic disorder 448
              Isobutyryl-CoA Dehydrogenase Deficiency 1
paths to the root