{
    "disease_id": "DOID:0111486",
    "recommended_name": {
        "id": "DOID:0111486",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111486",
        "name": "combined oxidative phosphorylation deficiency 3",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111486",
            "name": "COXPD3",
            "description": ""
        },
        {
            "id": "DOID:0111486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111486",
            "name": "Fatal mitochondrial disease due to COXPD3",
            "description": ""
        },
        {
            "id": "DOID:0111486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111486",
            "name": "encephalomyopathy, respiratory failure, and lactic acidosis",
            "description": ""
        },
        {
            "id": "DOID:0111486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111486",
            "name": "concentric cardiomyopathy, hypotonia, and lactic acidosis",
            "description": ""
        },
        {
            "id": "DOID:0111486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111486",
            "name": "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3",
            "description": "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy."
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "TSFM combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in TSFM",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "combined oxidative phosphorylation deficiency type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "fatal mitochondrial disease due to COXPD3",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "COXPD3",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "combined oxidative phosphorylation deficiency 3",
            "description": ""
        },
        {
            "id": "MIM:610505",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610505",
            "name": "Combined oxidative phosphorylation deficiency 3",
            "description": "Combined oxidative phosphorylation deficiency 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111486"
    ],
    "unlinked_id_list": []
}