{
    "disease_id": "DOID:0111226",
    "recommended_name": {
        "id": "DOID:0111226",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111226",
        "name": "X-linked congenital myopathy with fiber-type disproportion",
        "description": "A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111226",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111226",
            "name": "CFTDX",
            "description": ""
        },
        {
            "id": "MONDO:0010365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010365",
            "name": "CFTDX",
            "description": ""
        },
        {
            "id": "MONDO:0010365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010365",
            "name": "myopathy, congenital, with fiber-type disproportion, X-linked; CFTDX",
            "description": ""
        },
        {
            "id": "MONDO:0010365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010365",
            "name": "myopathy, congenital, with fiber-type disproportion, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010365",
            "name": "CFTDX",
            "description": ""
        }
    ]
}