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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:2-Methylbutyryl-CoA Dehydrogenase Deficiency
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Accession:DOID:9003149 term browser browse the term
Synonyms:exact_synonym: 2-MBCD Deficiency;   2-Methylbutyryl Glycinuria;   2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency;   2-methylbutyric aciduria;   DEFICIENCY OF 2-METHYLBUTYRYL-COA DEHYDROGENASE;   SBCAD deficiency;   SBCADD;   short-branched-chain acyl-CoA dehydrogenase deficiency
 primary_id: MESH:C566487
 alt_id: OMIM:610006
 xref: GARD:10322;   ORDO:79157



show annotations for term's descendants           Sort by:
2-Methylbutyryl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase
OMIM
CTD
ClinVar
PMID:9536098 PMID:10832746 PMID:11013134 PMID:12837870 PMID:15615815 More... NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Ikzf5 IKAROS family zinc finger 5 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr 1:186,169,108...186,188,847
Ensembl chr 1:186,170,788...186,188,834
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
            2-Methylbutyryl-CoA Dehydrogenase Deficiency 2
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
              2-Methylbutyryl-CoA Dehydrogenase Deficiency 2
paths to the root