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.
A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. (DO)
Synonyms:
exact_synonym:
ACADVL; ACADVLD; VLCAD deficiency; VLCAD-H; Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency; Vlcad-C; deficiency of very long-chain Acyl-CoA dehydrogenase
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar Annotator: match by OMIM:201475 CTD Direct Evidence: marker/mechanism