{
    "disease_id": "DOID:0070451",
    "recommended_name": {
        "id": "DOID:0070451",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070451",
        "name": "mitochondrial DNA depletion syndrome 20",
        "description": "A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0070451",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070451",
            "name": "mitochondrial DNA depletion syndrome 20 (MNGIE type)",
            "description": ""
        },
        {
            "id": "MONDO:0030696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030696",
            "name": "mitochondrial DNA depletion syndrome 20 (mngie type)",
            "description": ""
        },
        {
            "id": "MONDO:0030696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030696",
            "name": "MTDPS20",
            "description": ""
        },
        {
            "id": "MONDO:0030696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030696",
            "name": "mitochondrial DNA depletion syndrome 20 (mngie type)",
            "description": ""
        },
        {
            "id": "MONDO:0030696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030696",
            "name": "mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related",
            "description": ""
        },
        {
            "id": "MIM:619780",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619780",
            "name": "Mitochondrial DNA depletion syndrome 20, MNGIE type",
            "description": "Mitochondrial DNA depletion syndrome 20, MNGIE type"
        }
    ]
}