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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 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
 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;   RDO:0002533
 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: 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
OMIM
ClinVar
PMID:1430199 PMID:1882842 PMID:9334218 PMID:12815589 PMID:16510302 PMID:23785301 PMID:25741868 PMID:26409463 PMID:28492532 PMID:29096039 NCBI chr 8:60,028,786...60,086,352
Ensembl chr 8:60,028,789...60,086,403
JBrowse link
G Etfb electron transfer flavoprotein subunit beta ISO 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
OMIM
ClinVar
PMID:7912128 PMID:9350306 PMID:12815589 PMID:18289905 PMID:24033266 PMID:25741868 PMID:27081516 PMID:28492532 NCBI chr 1:98,472,776...98,486,940
Ensembl chr 1:98,472,745...98,486,976
JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO 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
OMIM
ClinVar
PMID:7173259 PMID:7173260 PMID:7757062 PMID:9536098 PMID:12359134 PMID:12815589 PMID:15669683 PMID:16434667 PMID:16510302 PMID:16527485 PMID:17412732 PMID:17576681 PMID:17584774 PMID:17977044 PMID:18289905 PMID:19249206 PMID:19265687 PMID:19758981 PMID:20023066 PMID:20138856 PMID:20370797 PMID:21088898 PMID:21347544 PMID:21907580 PMID:22013910 PMID:22041377 PMID:22611163 PMID:22664151 PMID:23628458 PMID:23727839 PMID:23785301 PMID:24190796 PMID:24357026 PMID:24516753 PMID:24522293 PMID:25741868 PMID:25827849 PMID:25913573 PMID:26403312 PMID:27000805 PMID:27038534 PMID:27060313 PMID:27270537 PMID:27935074 PMID:28492532 PMID:28914566 PMID:29336361 PMID:29988809 PMID:30022752 PMID:30587156 PMID:31268564 PMID:32393189 NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608
JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 2 ClinVar PMID:27259049 NCBI chr 2:188,726,994...188,736,462
Ensembl chr 2:188,726,994...188,736,462
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 chr 8:60,028,786...60,086,352
Ensembl chr 8:60,028,789...60,086,403
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        mitochondrial metabolism disease 353
          multiple acyl-CoA dehydrogenase deficiency 4
            Glutaric Aciduria 2 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            mitochondrial metabolism disease 353
              multiple acyl-CoA dehydrogenase deficiency 4
                Glutaric Aciduria 2 1
paths to the root