{
    "disease_id": "DOID:0080121",
    "recommended_name": {
        "id": "DOID:0080121",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080121",
        "name": "mitochondrial DNA depletion syndrome 3",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080121",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080121",
            "name": "deoxyguanosine kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)",
            "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene."
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "DGUOK mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "mitochondrial DNA depletion syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "mitochondrial DNA depletion syndrome caused by mutation in DGUOK",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "mitochondrial DNA depletion syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "MTDPS3",
            "description": ""
        },
        {
            "id": "MIM:251880",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251880",
            "name": "Mitochondrial DNA depletion syndrome 3",
            "description": "Mitochondrial DNA depletion syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080121"
    ],
    "unlinked_id_list": []
}