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


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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 PMID:16317551 PMID:17576681 PMID:17945527 PMID:20547083 PMID:23712021 PMID:25741868 PMID:28492532 PMID:30626930 PMID:30730842 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
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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
            2-Methylbutyryl-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
              2-Methylbutyryl-CoA Dehydrogenase Deficiency 1
paths to the root