{
    "disease_id": "DOID:0111497",
    "recommended_name": {
        "id": "DOID:0111497",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111497",
        "name": "combined oxidative phosphorylation deficiency 34",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111497",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111497",
            "name": "COXPD34",
            "description": ""
        },
        {
            "id": "DOID:0111497",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111497",
            "name": "syndromic sensorineural deafness due to COXPD",
            "description": ""
        },
        {
            "id": "DOID:0111497",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111497",
            "name": "syndromic sensorineural hearing loss due to COXPD",
            "description": ""
        },
        {
            "id": "DOID:0111497",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111497",
            "name": "syndromic sensorineural deafness due to combined oxidative phosphorylation defect",
            "description": ""
        },
        {
            "id": "MONDO:0054741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054741",
            "name": "combined oxidative phosphorylation deficiency 34",
            "description": ""
        },
        {
            "id": "MONDO:0054741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054741",
            "name": "COXPD34",
            "description": ""
        },
        {
            "id": "MONDO:0054741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054741",
            "name": "combined oxidative phosphorylation deficiency 34; COXPD34",
            "description": ""
        },
        {
            "id": "MIM:617872",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617872",
            "name": "Combined oxidative phosphorylation deficiency 34",
            "description": "Combined oxidative phosphorylation deficiency 34"
        }
    ]
}