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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

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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 ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase OMIM
ClinVar		 PMID:9536098 PMID:10832746 PMID:11013134 PMID:12837870 PMID:15615815 More... NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347 		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 chrNW_004955477:1,160,183...1,177,597
Ensembl chrNW_004955477:1,160,183...1,177,616 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6694
      disease of metabolism 6694
        inherited metabolic disorder 5142
          amino acid metabolic disorder 1418
            2-Methylbutyryl-CoA Dehydrogenase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          inherited metabolic disorder 5142
            amino acid metabolic disorder 1418
              2-Methylbutyryl-CoA Dehydrogenase Deficiency 2
paths to the root