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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:Succinyl-CoA:3-oxoacid CoA transferase deficiency
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Accession:DOID:9001530 term browser browse the term
Synonyms:exact_synonym: 3-oxoacid CoA transferase deficiency;   Ketoacidosis due to SCOT deficiency;   SCOT deficiency;   SCOTD;   Succinyl-Coa 3-Oxoacid Transferase Deficiency;   Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency;   succinyl-CoA:acetoacetate transferase deficiency
 primary_id: MESH:C537527
 alt_id: MIM:245050


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Succinyl-CoA:3-oxoacid CoA transferase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OXCT1 3-oxoacid CoA-transferase 1 ISO ClinVar Annotator: match by term: 3-Oxoacid CoA Transferase Deficiency | ClinVar Annotator: match by term: Succinyl CoA:3-oxoacid CoA transferase deficiency OMIM
ClinVar		 PMID:1405472 PMID:8751852 PMID:9392403 PMID:9536098 PMID:9671268 More... NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316 		JBrowse link
Term paths to the root
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  disease 15833
    Nutritional and Metabolic Diseases 7496
      disease of metabolism 7496
        Acid-Base Imbalance 146
          Acidoses 138
            Succinyl-CoA:3-oxoacid CoA transferase deficiency 1
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