{
    "disease_id": "DOID:0080336",
    "recommended_name": {
        "id": "DOID:0080336",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080336",
        "name": "mitochondrial DNA depletion syndrome 14",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29."
    },
    "synonyms": [
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "MTDPS14",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "OPA1 mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "mitochondrial DNA depletion syndrome caused by mutation in OPA1",
            "description": ""
        },
        {
            "id": "MIM:616896",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616896",
            "name": "Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type",
            "description": "Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080336"
    ],
    "unlinked_id_list": []
}