{
    "disease_id": "DOID:0111481", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013969", 
            "name": "combined oxidative phosphorylation defect type 11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013969", 
            "name": "combined oxidative phosphorylation deficiency type 11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013969", 
            "name": "COXPD11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013969", 
            "name": "combined oxidative phosphorylation deficiency 11; COXPD11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013969", 
            "name": "RMND1 combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013969", 
            "name": "Encephaloneuromyopathy, infantile, due to mitochondrial translation defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013969", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in RMND1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111481", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111481", 
            "name": "infantile encephaloneuromyopathy due to mitochondrial translation defect"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111481", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111481", 
            "name": "COXPD11"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111481", 
        "description": "A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in RMND1 on chromosome 6q25.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111481", 
        "name": "combined oxidative phosphorylation deficiency 11"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111481#disease-associations", 
            "id": "0111481", 
            "database": "Alliance of Genome Resources"
        }
    ]
}