{
    "disease_id": "DOID:0111483", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012510", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012510", 
            "name": "combined oxidative phosphorylation defect type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012510", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012510", 
            "name": "corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012510", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012510", 
            "name": "combined oxidative phosphorylation deficiency 2; COXPD2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012510", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012510", 
            "name": "COXPD2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012510", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012510", 
            "name": "combined oxidative phosphorylation deficiency type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012510", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012510", 
            "name": "MRPS16 combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012510", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012510", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in MRPS16"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111483", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111483", 
            "name": "COXPD2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111483", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111483", 
            "name": "agenesis of corpus callosum with dysmorphism and fatal lactic acidosis"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111483", 
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111483", 
        "name": "combined oxidative phosphorylation deficiency 2"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/610498", 
            "id": "610498", 
            "database": "MIM"
        }
    ]
}