{
    "disease_id": "DOID:0070448",
    "recommended_name": {
        "id": "DOID:0070448",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070448",
        "name": "mitochondrial DNA depletion syndrome 17",
        "description": "A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome."
    },
    "synonyms": [
        {
            "id": "MONDO:0032815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032815",
            "name": "mitochondrial DNA depletion syndrome 17",
            "description": ""
        },
        {
            "id": "MONDO:0032815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032815",
            "name": "MTDPS17",
            "description": ""
        },
        {
            "id": "MIM:618567",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618567",
            "name": "Mitochondrial DNA depletion syndrome 17",
            "description": "Mitochondrial DNA depletion syndrome 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070448"
    ],
    "unlinked_id_list": []
}