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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:multiple acyl-CoA dehydrogenase deficiency
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Accession:DOID:0060358 term browser browse the term
Definition: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: ETFA Deficiencies;   ETFB Deficiencies;   ETFDH Deficiencies;   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);   electron transfer flavoprotein alpha subunit deficiency;   electron transfer flavoprotein ubiquinone oxidoreductase deficiency;   multiple FAD dehydrogenase deficiency
 narrow_synonym: EMA GLUTARIC ACIDEMIA IIA;   ETFA DEFICIENCY;   ETFB DEFICIENCY;   ETFDH DEFICIENCY;   ETHYLMALONIC-ADIPICACIDURIA;   GLUTARIC ACIDEMIA IIB;   GLUTARIC ACIDEMIA IIC;   GLUTARIC ACIDEMIA IIC, LATE-ONSET
 primary_id: MESH:D054069
 alt_id: OMIM:231680
 xref: ICD10CM:E71.313;   NCI:C84907;   ORDO:26791
For additional species annotation, visit the Alliance of Genome Resources.


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multiple acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ETFA electron transfer flavoprotein subunit alpha ISO OMIM NCBI chr30:39,848,241...39,925,809
Ensembl chr30:39,848,270...39,964,823
JBrowse link
G ETFB electron transfer flavoprotein subunit beta ISO OMIM NCBI chr 1:105,612,791...105,628,125 JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase ISO OMIM NCBI chr15:55,752,170...55,781,118
Ensembl chr15:55,752,200...55,792,105
JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 2
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency
ClinVar PMID:27259049 PMID:28492532 NCBI chr 7:42,489,045...42,494,524
Ensembl chr 7:42,489,061...42,494,471
JBrowse link
Glutaric Aciduria 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ETFA electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Glutaric acidemia type 2A ClinVar PMID:25741868 PMID:28492532 NCBI chr30:39,848,241...39,925,809
Ensembl chr30:39,848,270...39,964,823
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13742
    Nutritional and Metabolic Diseases 4456
      disease of metabolism 4456
        mitochondrial metabolism disease 385
          multiple acyl-CoA dehydrogenase deficiency 4
            Glutaric Aciduria 2 1
Path 2
Term Annotations click to browse term
  disease 13742
    Developmental Disease 10325
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8436
          inherited metabolic disorder 2379
            mitochondrial metabolism disease 385
              multiple acyl-CoA dehydrogenase deficiency 4
                Glutaric Aciduria 2 1
paths to the root