{
    "disease_id": "DOID:0080130",
    "recommended_name": {
        "id": "DOID:0080130",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080130",
        "name": "mitochondrial DNA depletion syndrome 12a",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0014959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014959",
            "name": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014959",
            "name": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A",
            "description": ""
        },
        {
            "id": "MONDO:0014959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014959",
            "name": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014959",
            "name": "MTDPS12A",
            "description": ""
        },
        {
            "id": "MIM:617184",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617184",
            "name": "Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type",
            "description": "Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type"
        }
    ]
}