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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:short chain acyl-CoA dehydrogenase deficiency
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Accession:DOID:0080154 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. (DO)
Synonyms:exact_synonym: ACADSD;   Acads Deficiency;   Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of;   Deficiency of Butyryl-Coa Dehydrogenase;   Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency;   Scad Deficiency;   Scadh Deficiency;   short-chain acyl-Coenzyme A dehydrogenase deficiency
 primary_id: MESH:C537596
 alt_id: OMIM:201470
 xref: NCI:C84539;   ORDO:26792
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          short chain acyl-CoA dehydrogenase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              short chain acyl-CoA dehydrogenase deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.