{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012191", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012191", 
            "name": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012191", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012191", 
            "name": "GFM1 combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012191", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012191", 
            "name": "COXPD1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012191", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012191", 
            "name": "combined oxidative phosphorylation deficiency type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012191", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012191", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in GFM1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012191", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012191", 
            "name": "combined oxidative phosphorylation deficiency 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012191", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012191", 
            "name": "Hepatoencephalopathy, early fatal progressive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012191", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012191", 
            "name": "Hepatoencephalopathy due to COXPD1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012191", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012191", 
            "name": "combined oxidative phosphorylation deficiency 1; COXPD1"
        }, 
        {
            "url": "https://www.omim.org/entry/609060", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:609060", 
            "name": "Combined oxidative phosphorylation deficiency 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060286", 
        "description": "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060286", 
        "name": "combined oxidative phosphorylation deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/609060", 
            "id": "609060", 
            "database": "MIM"
        }
    ]
}