{
    "disease_id": "DOID:0050476",
    "recommended_name": {
        "id": "DOID:0050476",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050476",
        "name": "Barth syndrome",
        "description": "A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin."
    },
    "synonyms": [
        {
            "id": "DOID:0050476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050476",
            "name": "3-methylglutaconicaciduria type 2",
            "description": ""
        },
        {
            "id": "DOID:0050476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050476",
            "name": "3-methylglutaconicaciduria type II",
            "description": ""
        },
        {
            "id": "DOID:0050476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050476",
            "name": "MGA Type 2",
            "description": ""
        },
        {
            "id": "DOID:0050476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050476",
            "name": "MGA type II",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "Barth syndrome",
            "description": "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria."
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "3-methylglutaconic aciduria type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "BTHS",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "Barth syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "Barth syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "MGA2",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "X-linked cardioskeletal myopathy and neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "cardioskeletal myopathy with neutropenia and abnormal mitochondria",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "cardioskeletal myopathy-neutropenia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "3-methylglutaconic aciduria type II",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "TAZ defect",
            "description": ""
        },
        {
            "id": "MIM:302060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/302060",
            "name": "Barth syndrome",
            "description": "Barth syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050476"
    ],
    "unlinked_id_list": []
}