{
    "disease_id": "DOID:0111471", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014856", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014856", 
            "name": "combined oxidative phosphorylation defect type 30"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014856", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014856", 
            "name": "COXPD30"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014856", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014856", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in TRMT10C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014856", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014856", 
            "name": "combined oxidative phosphorylation deficiency type 30"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014856", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014856", 
            "name": "combined oxidative phosphorylation deficiency 30; COXPD30"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014856", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014856", 
            "name": "TRMT10C combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111471", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111471", 
            "name": "COXPD30"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111471", 
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT10C on chromosome 3q12.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111471", 
        "name": "combined oxidative phosphorylation deficiency 30"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111471#disease-associations", 
            "id": "0111471", 
            "database": "Alliance of Genome Resources"
        }
    ]
}