{
    "disease_id": "DOID:0111490",
    "recommended_name": {
        "id": "DOID:0111490",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111490",
        "name": "combined oxidative phosphorylation deficiency 26",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111490",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111490",
            "name": "COXPD26",
            "description": ""
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "combined oxidative phosphorylation defect type 26",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene."
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "COXPD26",
            "description": ""
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "TRMT5 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in TRMT5",
            "description": ""
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "combined oxidative phosphorylation deficiency type 26",
            "description": ""
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "combined oxidative phosphorylation deficiency 26",
            "description": ""
        },
        {
            "id": "MIM:616539",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616539",
            "name": "Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay",
            "description": "Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay"
        }
    ]
}