{
    "disease_id": "DOID:0080120",
    "recommended_name": {
        "id": "DOID:0080120",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080120",
        "name": "mitochondrial DNA depletion syndrome 2",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080120",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080120",
            "name": "TK2-related mitochondrial DNA depletion syndrome, myopathic form",
            "description": ""
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "mitochondrial DNA depletion syndrome, myopathic form",
            "description": "A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood."
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "thymidine kinase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "mitochondrial DNA depletion syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "mtDNA depletion syndrome, myopathic form",
            "description": ""
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "MTDPS2",
            "description": ""
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "mitochondrial DNA depletion syndrome 2 (myopathic type)",
            "description": ""
        },
        {
            "id": "MIM:609560",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609560",
            "name": "Mitochondrial DNA depletion syndrome 2",
            "description": "Mitochondrial DNA depletion syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080120"
    ],
    "unlinked_id_list": []
}