{
    "disease_id": "DOID:0111474", 
    "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": "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": "http://disease-ontology.org/term/DOID:0111474", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111474", 
            "name": "COXPD1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111474", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111474", 
            "name": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111474", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111474", 
            "name": "early fatal progressive hepatoencephalopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111474", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111474", 
            "name": "hepatoencephalopathy due to COXPD1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111474", 
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111474", 
        "name": "combined oxidative phosphorylation deficiency 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111474#disease-associations", 
            "id": "0111474", 
            "database": "Alliance of Genome Resources"
        }
    ]
}