{
    "disease_id": "DOID:0080121", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009636", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009636", 
            "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009636", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009636", 
            "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type); MTDPS3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009636", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009636", 
            "name": "DGUOK mitochondrial DNA depletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009636", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009636", 
            "name": "MTDPS3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009636", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009636", 
            "name": "mitochondrial DNA depletion syndrome type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009636", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009636", 
            "name": "mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009636", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009636", 
            "name": "mitochondrial DNA depletion syndrome caused by mutation in DGUOK"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080121", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080121", 
            "name": "deoxyguanosine kinase deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080121", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080121", 
        "name": "mitochondrial DNA depletion syndrome 3"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080121#disease-associations", 
            "id": "0080121", 
            "database": "Alliance of Genome Resources"
        }
    ]
}