{
    "disease_id": "DOID:0111470",
    "recommended_name": {
        "id": "DOID:0111470",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111470",
        "name": "combined oxidative phosphorylation deficiency 28",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111470",
            "name": "COXPD28",
            "description": ""
        },
        {
            "id": "DOID:0111470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111470",
            "name": "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "combined oxidative phosphorylation deficiency 28",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene."
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "COXPD28",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "SLC25A26 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "combined oxidative phosphorylation defect type 28",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "combined oxidative phosphorylation deficiency 28",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in SLC25A26",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "combined oxidative phosphorylation deficiency type 28",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect",
            "description": ""
        },
        {
            "id": "MIM:616794",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616794",
            "name": "Combined oxidative phosphorylation deficiency 28",
            "description": "Combined oxidative phosphorylation deficiency 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111470"
    ],
    "unlinked_id_list": []
}