{
    "disease_id": "DOID:0070750",
    "recommended_name": {
        "id": "DOID:0070750",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070750",
        "name": "mitochondrial myopathy and ataxia",
        "description": "A mitochondrial DNA depletion syndrome characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MSTO1 gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0044714",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044714",
            "name": "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044714",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044714",
            "name": "mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044714",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044714",
            "name": "MMYAT",
            "description": ""
        },
        {
            "id": "MIM:617675",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617675",
            "name": "Myopathy, mitochondrial, and ataxia",
            "description": "Myopathy, mitochondrial, and ataxia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070750"
    ],
    "unlinked_id_list": []
}