{
    "disease_id": "DOID:0060286",
    "recommended_name": {
        "id": "DOID:0060286",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060286",
        "name": "combined oxidative phosphorylation deficiency",
        "description": "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction."
    },
    "synonyms": [
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1",
            "description": "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement."
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "GFM1 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "COXPD1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "combined oxidative phosphorylation deficiency type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in GFM1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "combined oxidative phosphorylation deficiency 1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "Hepatoencephalopathy, early fatal progressive",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "Hepatoencephalopathy due to COXPD1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "combined oxidative phosphorylation deficiency 1; COXPD1",
            "description": ""
        },
        {
            "id": "MIM:609060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609060",
            "name": "Combined oxidative phosphorylation deficiency 1",
            "description": "Combined oxidative phosphorylation deficiency 1"
        }
    ]
}