{
    "disease_id": "DOID:0110002",
    "recommended_name": {
        "id": "DOID:0110002",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110002",
        "name": "3-methylglutaconic aciduria type 1",
        "description": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110002",
            "name": "3-methylglutaconic aciduria type I",
            "description": ""
        },
        {
            "id": "DOID:0110002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110002",
            "name": "3-methylglutaconyl-CoA hydratase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110002",
            "name": "3MG-CoA hydratase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110002",
            "name": "MGA type I",
            "description": ""
        },
        {
            "id": "DOID:0110002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110002",
            "name": "MGA1",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3-methylglutaconic aciduria type 1",
            "description": "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia."
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3-methylglutaconic aciduria caused by mutation in AUH",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3-methylglutaconic aciduria caused by mutation in auh",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3-methylglutaconic aciduria type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3-methylglutaconyl-CoA hydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3MG-CoA hydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "AUH 3-methylglutaconic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "MGA1",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "auh 3-methylglutaconic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3 alpha methylglutaconic aciduria type I",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3 methylglutaconic aciduria type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3 methylglutaconyl CoA hydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3-METHYLGLUTACONIC aciduria, type I",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3-MGCA type I (3-MGCA-1)",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3-methylglutaconyl-CoA hydratase deficiency (auh defect)",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "3MG CoA hydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "name": "MGCA1",
            "description": ""
        },
        {
            "id": "MIM:250950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/250950",
            "name": "3-methylglutaconic aciduria 1",
            "description": "3-methylglutaconic aciduria 1"
        }
    ],
    "children": [],
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    ],
    "unlinked_id_list": [],
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        {
            "id": "DOID:0110002",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110002",
            "categories": []
        },
        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "categories": []
        },
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            "url": "https://www.omim.org/entry/250950",
            "categories": []
        }
    ],
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            "uniprot_ac": "F1RDX1",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "type": "synonym"
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                {
                    "name": "AU RNA binding protein/enoyl-Coenzyme A hydratase",
                    "type": "synonym"
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                    "name": "Methylglutaconyl-CoA hydratase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "methylglutaconyl-CoA hydratase, mitochondrial",
                    "type": "synonym"
                }
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                    "name": "auh",
                    "type": "recommended"
                },
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                    "name": "auh",
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                },
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                    "name": "wu:fb81b10",
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                    "name": "zgc:101057",
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                }
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                }
            ],
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                    "name": "Enoyl-CoA hydratase domain-containing protein 2, mitochondrial",
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                    "name": "echdc2",
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                }
            ],
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                }
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                {
                    "name": "Echdc2",
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                {
                    "name": "1300017C12Rik",
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                },
                {
                    "name": "2610009M20Rik",
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                    "name": "D4Ertd765e",
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            ],
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                    "name": "Enoyl CoA hydratase domain containing 2",
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            ],
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                    "name": "enoyl Coenzyme A hydratase domain containing 2",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110002"
}
