JSON

multiple acyl-CoA dehydrogenase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0009282

A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure. [ Orphanet:26791 https://doi.org/10.1016/B978-0-323-40139-5.00087-5 https://github.com/monarch-initiative/mondo/issues/1569 ]

Term info

database cross reference
  • Orphanet:26791 (OMIM:231680)
  • NCIT:C84907 (MONDO:equivalentTo)
  • GARD:0006523 (MONDO:equivalentTo)
  • OMIM:231680 (Orphanet:26791/e)
  • UMLS:C0268596 (Orphanet:26791)
  • DOID:0060358 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
MADD [ DOID:0060358 Orphanet:26791 MONDO:Lexical OMIM:231680 ]

abbreviation
EMA [ GARD:0006523 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/4691

comment

Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670).

definition

A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.

exactMatch

http://purl.obolibrary.org/obo/DOID_0060358, https://omim.org/entry/231680, http://purl.obolibrary.org/obo/Orphanet_26791, http://purl.obolibrary.org/obo/NCIT_C84907, http://linkedlifedata.com/resource/umls/id/C0268596

has exact synonym

multiple acyl-CoA dehydrogenase deficiency, MAD deficiency, glutaric aciduria type 2, MADD, electron transfer flavoprotein deficiency, multiple acyl Coenzyme A dehydrogenase deficiency, glutaric acidemia type II, electron transfer flavoprotein ubiquinone oxidoreductase deficiency, glutaric aciduria, type 2, glutaric acidemia type 2

has narrow synonym

glutaric acidemia IIA, Etfb deficiency, glutaric acidemia 2A, Etfa deficiency, glutaric acidemia 2C, Etfdh deficiency, glutaric acidemia 2B, glutaric acidemia IIC, glutaric acidemia IIB

has related synonym

glutaric aciduria 2, glutaric acidemia 2, ethylmalonic-Adipicaciduria, EMA, Ga 2

id

MONDO:0009282