{
    "disease_id": "DOID:0051029",
    "recommended_name": {
        "id": "DOID:0051029",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051029",
        "name": "mitochondrial DNA depletion syndrome-21",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "MONDO:0976132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976132",
            "name": "mitochondrial dna depletion syndrome 21",
            "description": ""
        },
        {
            "id": "MIM:621071",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621071",
            "name": "Mitochondrial DNA depletion syndrome 21",
            "description": "Mitochondrial DNA depletion syndrome 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051029"
    ],
    "unlinked_id_list": []
}