{
    "disease_id": "DOID:0060358",
    "recommended_name": {
        "id": "DOID:0060358",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060358",
        "name": "multiple acyl-CoA dehydrogenase deficiency",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060358",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060358",
            "name": "electron transfer flavoprotein ubiquinone oxidoreductase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060358",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060358",
            "name": "MAD deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060358",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060358",
            "name": "MADD",
            "description": ""
        },
        {
            "id": "DOID:0060358",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060358",
            "name": "electron transfer flavoprotein deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060358",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060358",
            "name": "glutaric acidemia type 2",
            "description": ""
        },
        {
            "id": "DOID:0060358",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060358",
            "name": "glutaric aciduria type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "multiple acyl-CoA dehydrogenase deficiency",
            "description": "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."
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "Glutaric Aciduria Type II",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "MAD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "MADD",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "electron transfer flavoprotein deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "glutaric acidemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "glutaric acidemia type II",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "glutaric aciduria type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "glutaric aciduria, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "multiple acyl Coenzyme A dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "multiple acyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "Etfa deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "Etfb deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "Etfdh deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "glutaric acidemia 2A",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "glutaric acidemia 2B",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "glutaric acidemia 2C",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "glutaric acidemia IIA",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "glutaric acidemia IIB",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "glutaric acidemia IIC",
            "description": ""
        },
        {
            "id": "MONDO:0009282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "name": "EMA",
            "description": ""
        },
        {
            "id": "MIM:231680",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/231680",
            "name": "Glutaric aciduria 2C",
            "description": "Glutaric aciduria 2C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060358"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060358",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060358",
            "categories": []
        },
        {
            "id": "MONDO:0009282",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009282",
            "categories": []
        },
        {
            "id": "MIM:231680",
            "database": "MIM",
            "url": "https://www.omim.org/entry/231680",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DCW4-1",
            "uniprot_ac": "Q9DCW4",
            "uniprot_id": "ETFB_MOUSE",
            "refseq_ac": "NP_080971",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electron transfer flavoprotein subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Beta-ETF",
                    "type": "synonym"
                },
                {
                    "name": "beta-ETF",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Etfb",
                    "type": "recommended"
                },
                {
                    "name": "0610009I16Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810441H06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Etfb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DCW4-1",
            "evidence": [
                {
                    "id": "0060358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q921G7-1",
            "uniprot_ac": "Q921G7",
            "uniprot_id": "ETFD_MOUSE",
            "refseq_ac": "NP_080070",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.5.5.1",
                    "type": "synonym"
                },
                {
                    "name": "ETF dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "ETF-QO",
                    "type": "synonym"
                },
                {
                    "name": "ETF-ubiquinone oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "Electron-transferring-flavoprotein dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Etfdh",
                    "type": "recommended"
                },
                {
                    "name": "0610010I20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Etfdh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921G7-1",
            "evidence": [
                {
                    "id": "0060358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99LC5-1",
            "uniprot_ac": "Q99LC5",
            "uniprot_id": "ETFA_MOUSE",
            "refseq_ac": "NP_663590",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electron transfer flavoprotein subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-ETF",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein subunit alpha, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Etfa",
                    "type": "recommended"
                },
                {
                    "name": "2010200I21Rik",
                    "type": "synonym"
                },
                {
                    "name": "D9Ertd394e",
                    "type": "synonym"
                },
                {
                    "name": "Etfa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LC5-1",
            "evidence": [
                {
                    "id": "0060358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BMG8-1",
            "uniprot_ac": "Q8BMG8",
            "uniprot_id": "S2532_MOUSE",
            "refseq_ac": "NP_765990",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 25 member 32",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial FAD transporter",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial FAD transporter",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial folate transporter/carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a32",
                    "type": "recommended"
                },
                {
                    "name": "2610043O12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mftc",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a32",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BMG8-1",
            "evidence": [
                {
                    "id": "0060358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16134-1",
            "uniprot_ac": "Q16134",
            "uniprot_id": "ETFD_HUMAN",
            "refseq_ac": "NP_001268666",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.5.5.1",
                    "type": "synonym"
                },
                {
                    "name": "ETF dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "ETF-QO",
                    "type": "synonym"
                },
                {
                    "name": "ETF-ubiquinone oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "Electron-transferring-flavoprotein dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "electron-transferring-flavoprotein dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "mutant electron transfer flavoprotein dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ETFDH",
                    "type": "recommended"
                },
                {
                    "name": "ETFDH",
                    "type": "synonym"
                },
                {
                    "name": "ETFQO",
                    "type": "synonym"
                },
                {
                    "name": "MADD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16134-1",
            "evidence": [
                {
                    "id": "231680",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/231680"
                },
                {
                    "id": "0060358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13804-1",
            "uniprot_ac": "P13804",
            "uniprot_id": "ETFA_HUMAN",
            "refseq_ac": "NP_000117",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electron transfer flavoprotein subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-ETF",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ETF",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein subunit alpha, mitochondrial isoform a",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glutaric aciduria II",
                    "type": "synonym"
                },
                {
                    "name": "multiple acyl-CoA dehydrogenase deficiency",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ETFA",
                    "type": "recommended"
                },
                {
                    "name": "EMA",
                    "type": "synonym"
                },
                {
                    "name": "ETFA",
                    "type": "synonym"
                },
                {
                    "name": "GA2",
                    "type": "synonym"
                },
                {
                    "name": "MADD",
                    "type": "synonym"
                }
            ],
            "record_id": "P13804-1",
            "evidence": [
                {
                    "id": "231680",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/231680"
                },
                {
                    "id": "0060358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38117-1",
            "uniprot_ac": "P38117",
            "uniprot_id": "ETFB_HUMAN",
            "refseq_ac": "NP_001014763",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electron transfer flavoprotein subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Beta-ETF",
                    "type": "synonym"
                },
                {
                    "name": "beta-ETF",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein subunit beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "electron transfer flavoprotein, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "electron-transferring-flavoprotein, beta polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ETFB",
                    "type": "recommended"
                },
                {
                    "name": "ETFB",
                    "type": "synonym"
                },
                {
                    "name": "FP585",
                    "type": "synonym"
                },
                {
                    "name": "MADD",
                    "type": "synonym"
                }
            ],
            "record_id": "P38117-1",
            "evidence": [
                {
                    "id": "231680",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/231680"
                },
                {
                    "id": "0060358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40464-1",
            "uniprot_ac": "P40464",
            "uniprot_id": "FLX1_YEAST",
            "refseq_ac": "NP_012132",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial FAD carrier protein FLX1",
                    "type": "recommended"
                },
                {
                    "name": "flavin adenine dinucleotide transporter FLX1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLX1",
                    "type": "recommended"
                },
                {
                    "name": "FLX1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40464-1",
            "evidence": [
                {
                    "id": "0060358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42940-1",
            "uniprot_ac": "P42940",
            "uniprot_id": "ETFB_YEAST",
            "refseq_ac": "NP_011723",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electron transfer flavoprotein subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Beta-ETF",
                    "type": "synonym"
                },
                {
                    "name": "Changed intracellular redox state protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Cir1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CIR1",
                    "type": "recommended"
                },
                {
                    "name": "CIR1",
                    "type": "synonym"
                },
                {
                    "name": "G7742",
                    "type": "synonym"
                }
            ],
            "record_id": "P42940-1",
            "evidence": [
                {
                    "id": "0060358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08822-1",
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            ],
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                {
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                }
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                {
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                {
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                {
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                {
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                {
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                {
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                {
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                    "name": "MFT",
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        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060358"
}