Human Phenotype Ontology 
Grandparent Node:
Abnormality of the mitochondrion (HP:0012103)help
Parent Node:
Abnormality of mitochondrial metabolism (HP:0003287)help
..Starting node
Electron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647)help
Term ID: 3647
Name: Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Definition: A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.
Reference: HP:0003647
Genes and Diseases:
       Child Nodes:

 Sister Nodes: 
..expand3-Methylglutaconic aciduria (HP:0003535) help
..expandAbnormal activity of mitochondrial respiratory chain (HP:0011922) help
..expandAbnormal iron deposition in mitochondria (HP:0008306) help
..expandAbnormal mitochondria in muscle tissue (HP:0008316) help
..expandDecreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950) help
..expandDecreased activity of the pyruvate dehydrogenase complex (HP:0002928) help
..expandDecreased plasma carnitine (HP:0003234) help
..expandDeficiency or absence of cytochrome b(-245) (HP:0003514) help
..expandMitochondrial depletion (HP:0030059) help
..expandMitochondrial lysine transport defect (HP:0008265) help
..expandMitochondrial malic enzyme reduced (HP:0003232) help
..expandMitochondrial propionyl-CoA carboxylase defect (HP:0003288) help
..expandMitochondrial respiratory chain defects (HP:0200125) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003647HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0003647HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0003647HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77


Diseases (1) :OMIM:231680

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.