{
    "disease_id": "DOID:0111497", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054741", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054741", 
            "name": "COXPD34"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054741", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054741", 
            "name": "combined oxidative phosphorylation deficiency 34; COXPD34"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111497", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111497", 
            "name": "COXPD34"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111497", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111497", 
            "name": "syndromic sensorineural deafness due to COXPD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111497", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111497", 
            "name": "syndromic sensorineural hearing loss due to COXPD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111497", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111497", 
            "name": "syndromic sensorineural deafness due to combined oxidative phosphorylation defect"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111497", 
        "description": "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in MRPS7 on chromosome 17q25.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111497", 
        "name": "combined oxidative phosphorylation deficiency 34"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617872", 
            "id": "617872", 
            "database": "MIM"
        }
    ]
}