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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: MIM: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 Ate1 arginyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:184,961,548...185,081,112
Ensembl chr 1:184,963,562...185,080,908 		JBrowse link
G Btbd16 BTB domain containing 16 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:185,334,971...185,389,518
Ensembl chr 1:185,335,725...185,389,517 		JBrowse link
G C1h10orf120 similar to human chromosome 10 open reading frame 120 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:185,910,420...185,913,478
Ensembl chr 1:185,910,420...185,913,448 		JBrowse link
G C1h10orf88 similar to human chromosome 10 open reading frame 88 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:186,132,360...186,149,932
Ensembl chr 1:186,132,848...186,149,425 		JBrowse link
G Cuzd1 CUB and zona pellucida-like domains 1 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:186,089,422...186,130,536
Ensembl chr 1:186,089,423...186,102,546 		JBrowse link
G Dmbt1 deleted in malignant brain tumors 1 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:185,617,469...185,696,476
Ensembl chr 1:185,617,294...185,696,478 		JBrowse link
G Fam24a family with sequence similarity 24, member A ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:186,119,918...186,122,932 JBrowse link
G Fam24b family with sequence similarity 24 member B ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:186,112,544...186,115,957
Ensembl chr 1:186,112,551...186,115,899 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Ikzf5 IKAROS family zinc finger 5 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:25741868 PMID:26284228 PMID:28492532 NCBI chr 1:186,169,108...186,188,847
Ensembl chr 1:186,170,788...186,188,834 		JBrowse link
G Nsmce4a NSE4 homolog A, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:185,102,075...185,109,166
Ensembl chr 1:185,094,360...185,109,166 		JBrowse link
G Plekha1 pleckstrin homology domain containing A1 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:185,427,982...185,479,157
Ensembl chr 1:185,428,048...185,479,156 		JBrowse link
G Pstk phosphoseryl-tRNA kinase ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:186,157,730...186,168,145
Ensembl chr 1:186,157,707...186,168,145 		JBrowse link
G Tacc2 transforming, acidic coiled-coil containing protein 2 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:20547083 PMID:26284228 PMID:28492532 NCBI chr 1:185,139,223...185,327,881
Ensembl chr 1:185,116,111...185,327,881 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Nutritional and Metabolic Diseases 8516
      disease of metabolism 8516
        inherited metabolic disorder 6602
          amino acid metabolic disorder 1585
            2-Methylbutyryl-CoA Dehydrogenase Deficiency 16
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          inherited metabolic disorder 6602
            amino acid metabolic disorder 1585
              2-Methylbutyryl-CoA Dehydrogenase Deficiency 16
paths to the root