{
    "disease_id": "DOID:0060336",
    "recommended_name": {
        "id": "DOID:0060336",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060336",
        "name": "3-methylglutaconic aciduria",
        "description": "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine."
    },
    "synonyms": [
        {
            "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": [
        {
            "id": "DOID:0050476",
            "label": "Barth syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070000",
            "label": "3-methylglutaconic aciduria type 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070002",
            "label": "3-methylglutaconic aciduria type 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110000",
            "label": "3-methylglutaconic aciduria type 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110001",
            "label": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110002",
            "label": "3-methylglutaconic aciduria type 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110003",
            "label": "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:0081133",
                    "label": "3-methylglutaconic aciduria type 7a",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0081134",
                    "label": "3-methylglutaconic aciduria type 7b",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0110004",
            "label": "3-methylglutaconic aciduria type 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110002",
        "DOID:0110004",
        "DOID:0070000",
        "DOID:0110001",
        "DOID:0081133",
        "DOID:0060336",
        "DOID:0050476",
        "DOID:0110000",
        "DOID:0110003",
        "DOID:0081134",
        "DOID:0070002"
    ],
    "unlinked_id_list": [
        "DOID:0110003"
    ],
    "crossref": [
        {
            "id": "DOID:0060336",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060336",
            "categories": []
        },
        {
            "id": "MONDO:0009610",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009610",
            "categories": []
        },
        {
            "id": "MIM:250950",
            "database": "MIM",
            "url": "https://www.omim.org/entry/250950",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q13825-1",
            "uniprot_ac": "Q13825",
            "uniprot_id": "AUHM_HUMAN",
            "refseq_ac": "NP_001293119",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylglutaconyl-CoA hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-MG-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "3-methylglutaconyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.18",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.56",
                    "type": "synonym"
                },
                {
                    "name": "AU RNA binding protein/enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "AU RNA-binding protein/enoyl-Coenzyme A hydratase",
                    "type": "synonym"
                },
                {
                    "name": "AU-binding protein/Enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "AU-binding protein/enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "AU-specific RNA-binding enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "Itaconyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "itaconyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "methylglutaconyl-CoA hydratase, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "methylglutaconyl-CoA hydratase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AUH",
                    "type": "recommended"
                },
                {
                    "name": "AUH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13825-1",
            "evidence": [
                {
                    "id": "250950",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/250950"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060336"
}