{
    "disease_id": "DOID:0070447",
    "recommended_name": {
        "id": "DOID:0070447",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070447",
        "name": "mitochondrial DNA depletion syndrome 16B",
        "description": "A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070447",
            "name": "mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)",
            "description": ""
        },
        {
            "id": "MONDO:0030326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030326",
            "name": "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)",
            "description": ""
        },
        {
            "id": "MONDO:0030326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030326",
            "name": "MTDPS16B",
            "description": ""
        },
        {
            "id": "MONDO:0030326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030326",
            "name": "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)",
            "description": ""
        },
        {
            "id": "MIM:619425",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619425",
            "name": "Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type",
            "description": "Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070447"
    ],
    "unlinked_id_list": []
}