{
    "disease_id": "DOID:0080119",
    "recommended_name": {
        "id": "DOID:0080119",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080119",
        "name": "mitochondrial DNA depletion syndrome 1",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080119",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080119",
            "name": "mitochondrial DNA depletion syndrome 1 (MNGIE type)",
            "description": ""
        },
        {
            "id": "DOID:0080119",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080119",
            "name": "mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "mitochondrial DNA depletion syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "mitochondrial DNA depletion syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "mitochondrial DNA depletion syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "MTDPS1",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "Mngie, tymp-related",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "Polip syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "mitochondrial DNA depletion syndrome 1 (MNGIE type)",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "myoneurogastrointestinal encephalopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction",
            "description": ""
        },
        {
            "id": "MIM:603041",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603041",
            "name": "Mitochondrial DNA depletion syndrome 1, MNGIE type",
            "description": "Mitochondrial DNA depletion syndrome 1, MNGIE type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080119"
    ],
    "unlinked_id_list": []
}