{
    "disease_id": "DOID:0111185",
    "recommended_name": {
        "id": "DOID:0111185",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111185",
        "name": "myopathy, lactic acidosis, and sideroblastic anemia 1",
        "description": "A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0111185",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111185",
            "name": "MLASA1",
            "description": ""
        },
        {
            "id": "MONDO:0024553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024553",
            "name": "myopathy, lactic acidosis, and sideroblastic anemia 1",
            "description": "Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene."
        },
        {
            "id": "MONDO:0024553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024553",
            "name": "PUS1 myopathy, lactic acidosis, and sideroblastic anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0024553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024553",
            "name": "PUS1 myopathy, lactic acidosis, and sideroblastic anemia",
            "description": ""
        },
        {
            "id": "MONDO:0024553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024553",
            "name": "myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1",
            "description": ""
        },
        {
            "id": "MONDO:0024553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024553",
            "name": "myopathy, lactic acidosis, and sideroblastic anemia 1",
            "description": ""
        },
        {
            "id": "MONDO:0024553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024553",
            "name": "myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1",
            "description": ""
        },
        {
            "id": "MONDO:0024553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024553",
            "name": "MLASA1",
            "description": ""
        },
        {
            "id": "MONDO:0024553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024553",
            "name": "mitochondrial myopathy and sideroblastic anaemia",
            "description": ""
        },
        {
            "id": "MIM:600462",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600462",
            "name": "Myopathy with lactic acidosis and sideroblastic anemia 1",
            "description": "Myopathy with lactic acidosis and sideroblastic anemia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111185"
    ],
    "unlinked_id_list": []
}