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.
An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).
Synonyms:
exact_synonym:
ETFA Deficiencies; ETFB Deficiencies; ETFDH Deficiencies; Electron Transfer Flavoprotein Alpha Subunit Deficiency; Electron Transfer Flavoprotein Beta Subunit Deficiency; Electron Transfer Flavoprotein Deficiency; Electron Transfer Flavoprotein Dehydrogenase Deficiency; Ethylmalonic Adipic Aciduria; Ethylmalonic-Adipic Acidurias; GA II; GLUTARIC ACIDEMIA II; Glutaric Acidemia Type II; Glutaric Acidemia, Type 2; Glutaric Aciduria II; Glutaric Aciduria IIA; Glutaric Aciduria IIB; Glutaric Aciduria IIC; Glutaric Aciduria Type 2; Glutaric Aciduria Type II; MAD deficiency; MADD; MADD (Multiple Acyl CoA Dehydrogenase Deficiency); MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency); Multiple FAD Dehydrogenase Deficiency; electron transfer flavoprotein ubiquinone oxidoreductase deficiency
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar Annotator: match by term: Glutaric aciduria, type 2 ClinVar Annotator: match by OMIM:231680 ClinVar Annotator: match by term: ETFA deficiency
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar Annotator: match by term: Glutaric aciduria, type 2 ClinVar Annotator: match by term: Glutaric acidemia IIB
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar Annotator: match by term: Glutaric aciduria, type 2 ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset ClinVar Annotator: match by term: Glutaric acidemia IIC