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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: ETHYLMALONIC-ADIPICACIDURIA;   Electron Transfer Flavoprotein 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 Type 2;   Glutaric Aciduria Type II;   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;   GLUTARIC ACIDEMIA IIB;   GLUTARIC ACIDEMIA IIC;   GLUTARIC ACIDEMIA IIC, LATE-ONSET;   GLUTARIC ACIDEMIA TYPE 2C;   Glutaric Aciduria IIA;   Glutaric Aciduria IIB;   Glutaric Aciduria IIC;   electron transfer flavoprotein alpha subunit deficiency
 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 ClinVar Annotator: match by term: ETFA deficiency | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency OMIM
ClinVar
PMID:1430199 PMID:1882842 PMID:9334218 PMID:9536098 PMID:12815589 More... NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
JBrowse link
G Etfb electron transfer flavoprotein subunit beta ISO ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency OMIM
ClinVar
PMID:7912128 PMID:9350306 PMID:9536098 PMID:12815589 PMID:16510302 More... NCBI chr 1:93,851,908...93,866,072
Ensembl chr 1:93,851,858...93,866,068
JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Glutaric acidemia IIc | ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset | ClinVar Annotator: match by term: Glutaric acidemia type 2C | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency OMIM
ClinVar
PMID:7173260 PMID:9536098 PMID:12359134 PMID:12815589 PMID:15669683 More... NCBI chr 2:164,740,547...164,762,754
Ensembl chr 2:164,729,749...164,762,745
JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:27259049 PMID:28492532 NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Glutaric acidemia type 2 ClinVar PMID:25326637 PMID:25741868 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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:16510302 PMID:23785301 PMID:25741868 PMID:28492532 PMID:29096039 NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        mitochondrial metabolism disease 442
          multiple acyl-CoA dehydrogenase deficiency 5
            Glutaric Aciduria 2 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            mitochondrial metabolism disease 442
              multiple acyl-CoA dehydrogenase deficiency 5
                Glutaric Aciduria 2 1
paths to the root