{
    "disease_id": "DOID:0111487",
    "recommended_name": {
        "id": "DOID:0111487",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111487",
        "name": "combined oxidative phosphorylation deficiency 7",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111487",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111487",
            "name": "COXPD7",
            "description": ""
        },
        {
            "id": "DOID:0111487",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111487",
            "name": "severe C12ORF65-related COXPD",
            "description": ""
        },
        {
            "id": "DOID:0111487",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111487",
            "name": "severe C12ORF65-related combined oxidative phosphorylation defect",
            "description": ""
        },
        {
            "id": "MONDO:0013306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013306",
            "name": "combined oxidative phosphorylation defect type 7",
            "description": "Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life."
        },
        {
            "id": "MONDO:0013306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013306",
            "name": "C12orf65 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013306",
            "name": "C12ORF65 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013306",
            "name": "combined oxidative phosphorylation deficiency type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013306",
            "name": "severe C12ORF65-related combined oxidative phosphorylation defect",
            "description": ""
        },
        {
            "id": "MONDO:0013306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013306",
            "name": "severe C12ORF65-related COXPD",
            "description": ""
        },
        {
            "id": "MONDO:0013306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013306",
            "name": "COXPD7",
            "description": ""
        },
        {
            "id": "MONDO:0013306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013306",
            "name": "combined oxidative phosphorylation deficiency 7; COXPD7",
            "description": ""
        },
        {
            "id": "MONDO:0013306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013306",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in C12ORF65",
            "description": ""
        },
        {
            "id": "MONDO:0013306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013306",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in C12orf65",
            "description": ""
        },
        {
            "id": "MONDO:0013306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013306",
            "name": "combined oxidative phosphorylation deficiency 7",
            "description": ""
        },
        {
            "id": "MIM:613559",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613559",
            "name": "Combined oxidative phosphorylation deficiency 7",
            "description": "Combined oxidative phosphorylation deficiency 7"
        }
    ]
}