{
    "disease_id": "DOID:0080337",
    "recommended_name": {
        "id": "DOID:0080337",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080337",
        "name": "mitochondrial DNA depletion syndrome 15",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014943",
            "name": "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)",
            "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene."
        },
        {
            "id": "MONDO:0014943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014943",
            "name": "TFAM mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014943",
            "name": "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)",
            "description": ""
        },
        {
            "id": "MONDO:0014943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014943",
            "name": "mitochondrial DNA depletion syndrome caused by mutation in TFAM",
            "description": ""
        },
        {
            "id": "MONDO:0014943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014943",
            "name": "MTDPS15",
            "description": ""
        },
        {
            "id": "MIM:617156",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617156",
            "name": "Mitochondrial DNA depletion syndrome 15, hepatocerebral type",
            "description": "Mitochondrial DNA depletion syndrome 15, hepatocerebral type"
        }
    ]
}