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 inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. (DO)
Synonyms:
exact_synonym:
ETHYLMALONIC-ADIPICACIDURIA; Electron Transfer Flavoprotein Deficiency; Ethylmalonic Adipic Aciduria; Ethylmalonic-Adipic Acidurias; MAD deficiency; MADD; MADD (multiple acyl-CoA dehydrogenase deficiency); electron transfer flavoprotein ubiquinone oxidoreductase deficiency; multiple FAD dehydrogenase deficiency
narrow_synonym:
EMA GLUTARIC ACIDEMIA IIA; ETFA DEFICIENCY; ETFA deficiencies; ETFB DEFICIENCY; ETFB Deficiencies; ETFDH DEFICIENCY; ETFDH Deficiencies; Electron Transfer Flavoprotein Beta Subunit Deficiency; Electron Transfer Flavoprotein Dehydrogenase Deficiency; GA II; GLUTARIC ACIDEMIA II; GLUTARIC ACIDEMIA IIB; GLUTARIC ACIDEMIA IIC; GLUTARIC ACIDEMIA IIC, LATE-ONSET; GLUTARIC ACIDEMIA TYPE 2C; 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; MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, SEVERE NEONATAL TYPE; electron transfer flavoprotein alpha subunit deficiency
ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset | ClinVar Annotator: match by term: Glutaric acidemia type 2 | ClinVar Annotator: match by term: Glutaric acidemia type 2C | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency CTD Direct Evidence: marker/mechanism
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