{
    "disease_id": "DOID:0081419",
    "recommended_name": {
        "id": "DOID:0081419",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081419",
        "name": "childhood-onset dystonia with optic atrophy and basal ganglia abnormalities",
        "description": "A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later."
    },
    "synonyms": [
        {
            "id": "DOID:0081419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081419",
            "name": "DYSTONIA 29, CHILDHOOD-ONSET",
            "description": ""
        },
        {
            "id": "DOID:0081419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081419",
            "name": "DYTOABG",
            "description": ""
        },
        {
            "id": "DOID:0081419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081419",
            "name": "Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration",
            "description": ""
        },
        {
            "id": "DOID:0081419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081419",
            "name": "MECR-related neurologic disorder",
            "description": ""
        },
        {
            "id": "DOID:0081419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081419",
            "name": "MEPAN syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0015003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015003",
            "name": "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0015003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015003",
            "name": "DYTOABG",
            "description": ""
        },
        {
            "id": "MONDO:0015003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015003",
            "name": "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0015003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015003",
            "name": "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG",
            "description": ""
        },
        {
            "id": "MIM:617282",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617282",
            "name": "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",
            "description": "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081419"
    ],
    "unlinked_id_list": []
}